Canonical Allele Identifier: CA5511775

Gene: ANK3

Linked Data

• ClinVar Variation Id: 423878
• ClinVar RCV Id: RCV000482711
• dbSNP Id: rs147219129
• ExAC: 10:61833657 G / A
• gnomAD v2: 10-61833657-G-A
• gnomAD v3: 10-60073899-G-A
• gnomAD v4: 10-60073899-G-A
• COSMIC: COSM919263
• MyVariant Identifiers: chr10:g.61833657G>A (hg19) ; chr10:g.60073899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.60073899G>A , CM000672.2:g.60073899G>A	GRCh38
NC_000010.10:g.61833657G>A , CM000672.1:g.61833657G>A	GRCh37
NC_000010.9:g.61503663G>A	NCBI36
NG_029917.1:g.664628C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467420.7:c.4490-5890C>T	ENSP00000423968.2:n.4490-5890C>T
ENST00000503366.6:c.4409-5890C>T	ENSP00000425236.1:n.4409-5890C>T
ENST00000280772.7:c.6982C>T MANE Select	ENSP00000280772.1:p.Arg2328Cys
ENST00000280772.6:c.6982C>T	ENSP00000280772.1:p.Arg2328Cys
ENST00000355288.6:c.1808-5890C>T	ENSP00000347436.2:n.1808-5890C>T
ENST00000373820.5:c.182-5890C>T	ENSP00000362926.1:n.182-5890C>T
ENST00000373827.6:c.4388-5890C>T	ENSP00000362933.2:n.4388-5890C>T
ENST00000503366.5:c.4409-5890C>T	ENSP00000425236.1:n.4409-5890C>T
ENST00000511043.5:c.85-5890C>T
ENST00000610321.4:c.4013C>T
ENST00000616444.4:c.1224-5890C>T
ENST00000618374.4:c.1808-5890C>T	ENSP00000479018.1:n.1808-5890C>T
NM_001149.3:c.1808-5890C>T	NP_001140.2:n.1808-5890C>T
NM_001204403.1:c.4388-5890C>T	NP_001191332.1:n.4388-5890C>T
NM_001204404.1:c.4409-5890C>T	NP_001191333.1:n.4409-5890C>T
NM_020987.3:c.6982C>T	NP_066267.2:p.Arg2328Cys
XM_005269715.2:c.4460-5890C>T	XP_005269772.1:n.4460-5890C>T
XM_005269716.2:c.4406-5890C>T	XP_005269773.1:n.4406-5890C>T
XM_006717791.2:c.7054C>T	XP_006717854.1:p.Arg2352Cys
XM_006717793.2:c.7054C>T	XP_006717856.1:p.Arg2352Cys
XM_006717795.2:c.7054C>T	XP_006717858.1:p.Arg2352Cys
XM_006717796.2:c.7054C>T	XP_006717859.1:p.Arg2352Cys
XM_006717802.2:c.4499-5890C>T	XP_006717865.1:n.4499-5890C>T
XM_011539700.1:c.7042C>T	XP_011538002.1:p.Arg2348Cys
XM_011539701.1:c.7036C>T	XP_011538003.1:p.Arg2346Cys
XM_011539702.1:c.6997C>T	XP_011538004.1:p.Arg2333Cys
XM_011539703.1:c.6976C>T	XP_011538005.1:p.Arg2326Cys
XM_011539704.1:c.6955C>T	XP_011538006.1:p.Arg2319Cys
XM_011539705.1:c.6955C>T	XP_011538007.1:p.Arg2319Cys
XM_011539706.1:c.6943C>T	XP_011538008.1:p.Arg2315Cys
XM_011539707.1:c.7054C>T	XP_011538009.1:p.Arg2352Cys
XM_011539708.1:c.7054C>T	XP_011538010.1:p.Arg2352Cys
XM_011539709.1:c.7054C>T	XP_011538011.1:p.Arg2352Cys
XM_011539710.1:c.4499-5890C>T	XP_011538012.1:n.4499-5890C>T
XM_011539711.1:c.4472-5890C>T	XP_011538013.1:n.4472-5890C>T
XM_011539712.1:c.4463-5890C>T	XP_011538014.1:n.4463-5890C>T
XM_011539713.1:c.4436-5890C>T	XP_011538015.1:n.4436-5890C>T
XM_011539714.1:c.4402C>T	XP_011538016.1:p.Arg1468Cys
XM_011539715.1:c.4390C>T	XP_011538017.1:p.Arg1464Cys
XM_011539716.1:c.4472-5890C>T	XP_011538018.1:n.4472-5890C>T
XM_011539717.1:c.4460-5890C>T	XP_011538019.1:n.4460-5890C>T
XM_011539718.1:c.4343-5890C>T	XP_011538020.1:n.4343-5890C>T
NM_001320874.1:c.4406-5890C>T	NP_001307803.1:n.4406-5890C>T
NM_020987.4:c.6982C>T	NP_066267.2:p.Arg2328Cys
XM_005269715.3:c.4460-5890C>T	XP_005269772.1:n.4460-5890C>T
XM_006717796.3:c.7054C>T	XP_006717859.1:p.Arg2352Cys
XM_006717802.3:c.4499-5890C>T	XP_006717865.1:n.4499-5890C>T
XM_011539708.2:c.7054C>T	XP_011538010.1:p.Arg2352Cys
XM_011539709.2:c.7054C>T	XP_011538011.1:p.Arg2352Cys
XM_017016110.1:c.7054C>T	XP_016871599.1:p.Arg2352Cys
XM_017016111.1:c.7042C>T	XP_016871600.1:p.Arg2348Cys
XM_017016112.1:c.7039C>T	XP_016871601.1:p.Arg2347Cys
XM_017016113.1:c.7027C>T	XP_016871602.1:p.Arg2343Cys
XM_017016114.1:c.7003C>T	XP_016871603.1:p.Arg2335Cys
XM_017016115.1:c.6976C>T	XP_016871604.1:p.Arg2326Cys
XM_017016116.1:c.7054C>T	XP_016871605.1:p.Arg2352Cys
XM_017016117.1:c.7054C>T	XP_016871606.1:p.Arg2352Cys
XM_017016118.1:c.7054C>T	XP_016871607.1:p.Arg2352Cys
XM_017016119.1:c.7054C>T	XP_016871608.1:p.Arg2352Cys
XM_017016120.1:c.7054C>T	XP_016871609.1:p.Arg2352Cys
XM_017016121.1:c.7027C>T	XP_016871610.1:p.Arg2343Cys
XM_017016122.1:c.6961C>T	XP_016871611.1:p.Arg2321Cys
XM_017016123.1:c.7054C>T	XP_016871612.1:p.Arg2352Cys
XM_017016124.1:c.7027C>T	XP_016871613.1:p.Arg2343Cys
XM_017016125.1:c.7027C>T	XP_016871614.1:p.Arg2343Cys
XM_017016126.1:c.6922C>T	XP_016871615.1:p.Arg2308Cys
XM_017016127.1:c.6895C>T	XP_016871616.1:p.Arg2299Cys
XM_017016128.1:c.4472-5890C>T	XP_016871617.1:n.4472-5890C>T
XM_017016129.1:c.4472-5890C>T	XP_016871618.1:n.4472-5890C>T
XM_017016130.1:c.4406-5890C>T	XP_016871619.1:n.4406-5890C>T
XM_017016131.1:c.4391-5890C>T	XP_016871620.1:n.4391-5890C>T
XM_017016132.1:c.4370-5890C>T	XP_016871621.1:n.4370-5890C>T
XM_017016134.1:c.4340-5890C>T	XP_016871623.1:n.4340-5890C>T
XM_017016136.1:c.4499-5890C>T	XP_016871625.1:n.4499-5890C>T
XM_017016137.1:c.4472-5890C>T	XP_016871626.1:n.4472-5890C>T
XM_017016138.1:c.4472-5890C>T	XP_016871627.1:n.4472-5890C>T
XM_017016141.1:c.4367-5890C>T	XP_016871630.1:n.4367-5890C>T
XM_024447953.1:c.7027C>T	XP_024303721.1:p.Arg2343Cys
XM_024447954.1:c.7000C>T	XP_024303722.1:p.Arg2334Cys
XM_024447955.1:c.6991C>T	XP_024303723.1:p.Arg2331Cys
XM_024447956.1:c.6988C>T	XP_024303724.1:p.Arg2330Cys
XM_024447957.1:c.6955C>T	XP_024303725.1:p.Arg2319Cys
XM_024447958.1:c.6937C>T	XP_024303726.1:p.Arg2313Cys
XM_024447959.1:c.6937C>T	XP_024303727.1:p.Arg2313Cys
XM_024447960.1:c.6925C>T	XP_024303728.1:p.Arg2309Cys
XM_024447961.1:c.6922C>T	XP_024303729.1:p.Arg2308Cys
XM_024447962.1:c.7027C>T	XP_024303730.1:p.Arg2343Cys
XM_024447963.1:c.7054C>T	XP_024303731.1:p.Arg2352Cys
XM_024447964.1:c.4436-5890C>T	XP_024303732.1:n.4436-5890C>T
XM_024447965.1:c.4463-5890C>T	XP_024303733.1:n.4463-5890C>T
NM_020987.5:c.6982C>T MANE Select	NP_066267.2:p.Arg2328Cys
NM_001204403.2:c.4388-5890C>T	NP_001191332.1:n.4388-5890C>T
NM_001204404.2:c.4409-5890C>T	NP_001191333.1:n.4409-5890C>T
NM_001320874.2:c.4406-5890C>T	NP_001307803.1:n.4406-5890C>T
NM_001149.4:c.1808-5890C>T	NP_001140.2:n.1808-5890C>T