Canonical Allele Identifier: CA376994444

Gene: ANK3

Linked Data

• gnomAD v4: 10-60114328-G-C
• MyVariant Identifiers: chr10:g.61874086G>C (hg19) ; chr10:g.60114328G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.60114328G>C , CM000672.2:g.60114328G>C	GRCh38
NC_000010.10:g.61874086G>C , CM000672.1:g.61874086G>C	GRCh37
NC_000010.9:g.61544092G>C	NCBI36
NG_029917.1:g.624199C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467420.7:c.2803C>G	ENSP00000423968.2:p.Leu935Val
ENST00000503366.6:c.2848C>G	ENSP00000425236.1:p.Leu950Val
ENST00000280772.7:c.2845C>G MANE Select	ENSP00000280772.1:p.Leu949Val
ENST00000280772.6:c.2845C>G	ENSP00000280772.1:p.Leu949Val
ENST00000355288.6:c.247C>G	ENSP00000347436.2:p.Leu83Val
ENST00000373815.5:c.220C>G	ENSP00000362921.1:p.Leu74Val
ENST00000373827.6:c.2827C>G	ENSP00000362933.2:p.Leu943Val
ENST00000503366.5:c.2848C>G	ENSP00000425236.1:p.Leu950Val
ENST00000513049.5:c.220C>G	ENSP00000426582.1:p.Leu74Val
ENST00000618080.4:c.243C>G
ENST00000618374.4:c.247C>G	ENSP00000479018.1:p.Leu83Val
ENST00000622427.4:c.*1411C>G	ENSP00000483244.1:n.*1411C>G
NM_001149.3:c.247C>G	NP_001140.2:p.Leu83Val
NM_001204403.1:c.2827C>G	NP_001191332.1:p.Leu943Val
NM_001204404.1:c.2848C>G	NP_001191333.1:p.Leu950Val
NM_020987.3:c.2845C>G	NP_066267.2:p.Leu949Val
XM_005269715.2:c.2899C>G	XP_005269772.1:p.Leu967Val
XM_005269716.2:c.2845C>G	XP_005269773.1:p.Leu949Val
XM_006717791.2:c.2911C>G	XP_006717854.1:p.Leu971Val
XM_006717793.2:c.2911C>G	XP_006717856.1:p.Leu971Val
XM_006717795.2:c.2911C>G	XP_006717858.1:p.Leu971Val
XM_006717796.2:c.2911C>G	XP_006717859.1:p.Leu971Val
XM_006717802.2:c.2911C>G	XP_006717865.1:p.Leu971Val
XM_011539700.1:c.2899C>G	XP_011538002.1:p.Leu967Val
XM_011539701.1:c.2893C>G	XP_011538003.1:p.Leu965Val
XM_011539702.1:c.2854C>G	XP_011538004.1:p.Leu952Val
XM_011539703.1:c.2833C>G	XP_011538005.1:p.Leu945Val
XM_011539704.1:c.2812C>G	XP_011538006.1:p.Leu938Val
XM_011539705.1:c.2812C>G	XP_011538007.1:p.Leu938Val
XM_011539706.1:c.2800C>G	XP_011538008.1:p.Leu934Val
XM_011539707.1:c.2911C>G	XP_011538009.1:p.Leu971Val
XM_011539708.1:c.2911C>G	XP_011538010.1:p.Leu971Val
XM_011539709.1:c.2911C>G	XP_011538011.1:p.Leu971Val
XM_011539710.1:c.2911C>G	XP_011538012.1:p.Leu971Val
XM_011539711.1:c.2911C>G	XP_011538013.1:p.Leu971Val
XM_011539712.1:c.2911C>G	XP_011538014.1:p.Leu971Val
XM_011539713.1:c.2911C>G	XP_011538015.1:p.Leu971Val
XM_011539714.1:c.259C>G	XP_011538016.1:p.Leu87Val
XM_011539715.1:c.247C>G	XP_011538017.1:p.Leu83Val
XM_011539716.1:c.2911C>G	XP_011538018.1:p.Leu971Val
XM_011539717.1:c.2899C>G	XP_011538019.1:p.Leu967Val
XM_011539718.1:c.2782C>G	XP_011538020.1:p.Leu928Val
NM_001320874.1:c.2845C>G	NP_001307803.1:p.Leu949Val
NM_020987.4:c.2845C>G	NP_066267.2:p.Leu949Val
XM_005269715.3:c.2899C>G	XP_005269772.1:p.Leu967Val
XM_006717796.3:c.2911C>G	XP_006717859.1:p.Leu971Val
XM_006717802.3:c.2911C>G	XP_006717865.1:p.Leu971Val
XM_011539708.2:c.2911C>G	XP_011538010.1:p.Leu971Val
XM_011539709.2:c.2911C>G	XP_011538011.1:p.Leu971Val
XM_017016110.1:c.2911C>G	XP_016871599.1:p.Leu971Val
XM_017016111.1:c.2899C>G	XP_016871600.1:p.Leu967Val
XM_017016112.1:c.2896C>G	XP_016871601.1:p.Leu966Val
XM_017016113.1:c.2911C>G	XP_016871602.1:p.Leu971Val
XM_017016114.1:c.2860C>G	XP_016871603.1:p.Leu954Val
XM_017016115.1:c.2833C>G	XP_016871604.1:p.Leu945Val
XM_017016116.1:c.2911C>G	XP_016871605.1:p.Leu971Val
XM_017016117.1:c.2911C>G	XP_016871606.1:p.Leu971Val
XM_017016118.1:c.2911C>G	XP_016871607.1:p.Leu971Val
XM_017016119.1:c.2911C>G	XP_016871608.1:p.Leu971Val
XM_017016120.1:c.2911C>G	XP_016871609.1:p.Leu971Val
XM_017016121.1:c.2911C>G	XP_016871610.1:p.Leu971Val
XM_017016122.1:c.2845C>G	XP_016871611.1:p.Leu949Val
XM_017016123.1:c.2911C>G	XP_016871612.1:p.Leu971Val
XM_017016124.1:c.2911C>G	XP_016871613.1:p.Leu971Val
XM_017016125.1:c.2884C>G	XP_016871614.1:p.Leu962Val
XM_017016126.1:c.2779C>G	XP_016871615.1:p.Leu927Val
XM_017016127.1:c.2779C>G	XP_016871616.1:p.Leu927Val
XM_017016128.1:c.2911C>G	XP_016871617.1:p.Leu971Val
XM_017016129.1:c.2911C>G	XP_016871618.1:p.Leu971Val
XM_017016130.1:c.2845C>G	XP_016871619.1:p.Leu949Val
XM_017016131.1:c.2830C>G	XP_016871620.1:p.Leu944Val
XM_017016132.1:c.2845C>G	XP_016871621.1:p.Leu949Val
XM_017016134.1:c.2779C>G	XP_016871623.1:p.Leu927Val
XM_017016136.1:c.2911C>G	XP_016871625.1:p.Leu971Val
XM_017016137.1:c.2911C>G	XP_016871626.1:p.Leu971Val
XM_017016138.1:c.2911C>G	XP_016871627.1:p.Leu971Val
XM_017016141.1:c.2779C>G	XP_016871630.1:p.Leu927Val
XM_024447953.1:c.2884C>G	XP_024303721.1:p.Leu962Val
XM_024447954.1:c.2857C>G	XP_024303722.1:p.Leu953Val
XM_024447955.1:c.2848C>G	XP_024303723.1:p.Leu950Val
XM_024447956.1:c.2845C>G	XP_024303724.1:p.Leu949Val
XM_024447957.1:c.2812C>G	XP_024303725.1:p.Leu938Val
XM_024447958.1:c.2794C>G	XP_024303726.1:p.Leu932Val
XM_024447959.1:c.2794C>G	XP_024303727.1:p.Leu932Val
XM_024447960.1:c.2782C>G	XP_024303728.1:p.Leu928Val
XM_024447961.1:c.2779C>G	XP_024303729.1:p.Leu927Val
XM_024447962.1:c.2911C>G	XP_024303730.1:p.Leu971Val
XM_024447963.1:c.2911C>G	XP_024303731.1:p.Leu971Val
XM_024447964.1:c.2911C>G	XP_024303732.1:p.Leu971Val
XM_024447965.1:c.2911C>G	XP_024303733.1:p.Leu971Val
NM_020987.5:c.2845C>G MANE Select	NP_066267.2:p.Leu949Val
NM_001204403.2:c.2827C>G	NP_001191332.1:p.Leu943Val
NM_001204404.2:c.2848C>G	NP_001191333.1:p.Leu950Val
NM_001320874.2:c.2845C>G	NP_001307803.1:p.Leu949Val
NM_001149.4:c.247C>G	NP_001140.2:p.Leu83Val