Canonical Allele Identifier: CA8042966

Gene: ABCC11

Linked Data

• dbSNP Id: rs750790976
• ExAC: 16:48201507 G / T
• gnomAD v2: 16-48201507-G-T
• gnomAD v3: 16-48167596-G-T
• gnomAD v4: 16-48167596-G-T
• MyVariant Identifiers: chr16:g.48201507G>T (hg19) ; chr16:g.48167596G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.48167596G>T , CM000678.2:g.48167596G>T	GRCh38
NC_000016.9:g.48201507G>T , CM000678.1:g.48201507G>T	GRCh37
NC_000016.8:g.46759008G>T	NCBI36
NG_011522.1:g.72582C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356608.7:c.3956C>A MANE Select	ENSP00000349017.2:p.Thr1319Lys
ENST00000353782.9:c.3842C>A	ENSP00000311326.6:p.Thr1281Lys
ENST00000356608.6:c.3956C>A	ENSP00000349017.2:p.Thr1319Lys
ENST00000394747.5:c.3956C>A	ENSP00000378230.1:p.Thr1319Lys
ENST00000394748.5:c.3956C>A	ENSP00000378231.1:p.Thr1319Lys
ENST00000565329.1:n.1256C>A
NM_032583.3:c.3956C>A	NP_115972.2:p.Thr1319Lys
NM_033151.3:c.3956C>A	NP_149163.2:p.Thr1319Lys
NM_145186.2:c.3842C>A	NP_660187.1:p.Thr1281Lys
XM_011523396.1:c.3758C>A	XP_011521698.1:p.Thr1253Lys
XM_011523397.1:c.2999C>A	XP_011521699.1:p.Thr1000Lys
XM_011523398.1:c.2087C>A	XP_011521700.1:p.Thr696Lys
XM_011523397.2:c.2999C>A	XP_011521699.1:p.Thr1000Lys
XM_011523398.3:c.2087C>A	XP_011521700.1:p.Thr696Lys
XM_017023795.2:c.3956C>A	XP_016879284.1:p.Thr1319Lys
XM_017023796.2:c.3956C>A	XP_016879285.1:p.Thr1319Lys
XM_017023797.2:c.3956C>A	XP_016879286.1:p.Thr1319Lys
XM_017023798.2:c.3956C>A	XP_016879287.1:p.Thr1319Lys
XM_017023799.2:c.3956C>A	XP_016879288.1:p.Thr1319Lys
XM_017023800.2:c.3956C>A	XP_016879289.1:p.Thr1319Lys
XM_017023801.2:c.3848C>A	XP_016879290.1:p.Thr1283Lys
XM_017023802.2:c.2999C>A	XP_016879291.1:p.Thr1000Lys
XM_024450475.1:c.2999C>A	XP_024306243.1:p.Thr1000Lys
XR_001752012.1:n.6634C>A
NM_001370496.1:c.3962C>A	NP_001357425.1:p.Thr1321Lys
NM_001370497.1:c.3956C>A MANE Select	NP_001357426.1:p.Thr1319Lys
NM_032583.4:c.3956C>A	NP_115972.2:p.Thr1319Lys
NM_033151.4:c.3956C>A	NP_149163.2:p.Thr1319Lys
NM_145186.3:c.3842C>A	NP_660187.1:p.Thr1281Lys