Canonical Allele Identifier: CA346670670

Gene: ABCG8

Linked Data

• dbSNP Id: rs1375916280
• gnomAD v2: 2-44102522-T-A
• gnomAD v4: 2-43875383-T-A
• MyVariant Identifiers: chr2:g.44102522T>A (hg19) ; chr2:g.43875383T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875383T>A , CM000664.2:g.43875383T>A	GRCh38
NC_000002.11:g.44102522T>A , CM000664.1:g.44102522T>A	GRCh37
NC_000002.10:g.43956026T>A	NCBI36
NG_008884.1:g.41420T>A
NG_008884.2:g.48442T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1726T>A MANE Select	ENSP00000272286.2:p.Phe576Ile
ENST00000272286.2:c.1726T>A	ENSP00000272286.2:p.Phe576Ile
NM_022437.2:c.1726T>A	NP_071882.1:p.Phe576Ile
XM_005264483.2:c.1723T>A	XP_005264540.1:p.Phe575Ile
XM_011533029.1:c.1738T>A	XP_011531331.1:p.Phe580Ile
XM_011533030.1:c.1735T>A	XP_011531332.1:p.Phe579Ile
XM_011533031.1:c.1510T>A	XP_011531333.1:p.Phe504Ile
XR_939707.1:n.2228T>A
NM_001357321.1:c.1723T>A	NP_001344250.1:p.Phe575Ile
XM_011533029.2:c.1738T>A	XP_011531331.1:p.Phe580Ile
XM_011533030.2:c.1735T>A	XP_011531332.1:p.Phe579Ile
XR_001738891.1:n.2242T>A
XR_939707.2:n.2242T>A
NM_022437.3:c.1726T>A MANE Select	NP_071882.1:p.Phe576Ile
NM_001357321.2:c.1723T>A	NP_001344250.1:p.Phe575Ile