Canonical Allele Identifier: CA1637245

Gene: ABCG8

Linked Data

• dbSNP Id: rs758668360
• ExAC: 2:44099139 G / A
• gnomAD v2: 2-44099139-G-A
• gnomAD v4: 2-43872000-G-A
• COSMIC: COSM6091484
• MyVariant Identifiers: chr2:g.44099139G>A (hg19) ; chr2:g.43872000G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43872000G>A , CM000664.2:g.43872000G>A	GRCh38
NC_000002.11:g.44099139G>A , CM000664.1:g.44099139G>A	GRCh37
NC_000002.10:g.43952643G>A	NCBI36
NG_008884.1:g.38037G>A
NG_008884.2:g.45059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.989G>A MANE Select	ENSP00000272286.2:p.Arg330His
ENST00000644611.1:c.1001G>A	ENSP00000495423.1:p.Arg334His
ENST00000272286.2:c.989G>A	ENSP00000272286.2:p.Arg330His
NM_022437.2:c.989G>A	NP_071882.1:p.Arg330His
XM_005264483.2:c.989G>A	XP_005264540.1:p.Arg330His
XM_011533029.1:c.1001G>A	XP_011531331.1:p.Arg334His
XM_011533030.1:c.1001G>A	XP_011531332.1:p.Arg334His
XM_011533031.1:c.773G>A	XP_011531333.1:p.Arg258His
XR_939707.1:n.1491G>A
NM_001357321.1:c.989G>A	NP_001344250.1:p.Arg330His
XM_011533029.2:c.1001G>A	XP_011531331.1:p.Arg334His
XM_011533030.2:c.1001G>A	XP_011531332.1:p.Arg334His
XR_001738891.1:n.1505G>A
XR_939707.2:n.1505G>A
NM_022437.3:c.989G>A MANE Select	NP_071882.1:p.Arg330His
NM_001357321.2:c.989G>A	NP_001344250.1:p.Arg330His