Canonical Allele Identifier: CA1637244

Gene: ABCG8

Linked Data

• dbSNP Id: rs753003049
• ExAC: 2:44099137 G / A
• gnomAD v2: 2-44099137-G-A
• MyVariant Identifiers: chr2:g.44099137G>A (hg19) ; chr2:g.43871998G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43871998G>A , CM000664.2:g.43871998G>A	GRCh38
NC_000002.11:g.44099137G>A , CM000664.1:g.44099137G>A	GRCh37
NC_000002.10:g.43952641G>A	NCBI36
NG_008884.1:g.38035G>A
NG_008884.2:g.45057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.987G>A MANE Select	ENSP00000272286.2:p.Arg329=
ENST00000644611.1:c.999G>A	ENSP00000495423.1:p.Arg333=
ENST00000272286.2:c.987G>A	ENSP00000272286.2:p.Arg329=
NM_022437.2:c.987G>A	NP_071882.1:p.Arg329=
XM_005264483.2:c.987G>A	XP_005264540.1:p.Arg329=
XM_011533029.1:c.999G>A	XP_011531331.1:p.Arg333=
XM_011533030.1:c.999G>A	XP_011531332.1:p.Arg333=
XM_011533031.1:c.771G>A	XP_011531333.1:p.Arg257=
XR_939707.1:n.1489G>A
NM_001357321.1:c.987G>A	NP_001344250.1:p.Arg329=
XM_011533029.2:c.999G>A	XP_011531331.1:p.Arg333=
XM_011533030.2:c.999G>A	XP_011531332.1:p.Arg333=
XR_001738891.1:n.1503G>A
XR_939707.2:n.1503G>A
NM_022437.3:c.987G>A MANE Select	NP_071882.1:p.Arg329=
NM_001357321.2:c.987G>A	NP_001344250.1:p.Arg329=