Canonical Allele Identifier: CA1637521

Gene: ABCG8

Linked Data

• dbSNP Id: rs780784430
• ExAC: 2:44102248 G / A
• gnomAD v2: 2-44102248-G-A
• gnomAD v4: 2-43875109-G-A
• MyVariant Identifiers: chr2:g.44102248G>A (hg19) ; chr2:g.43875109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875109G>A , CM000664.2:g.43875109G>A	GRCh38
NC_000002.11:g.44102248G>A , CM000664.1:g.44102248G>A	GRCh37
NC_000002.10:g.43955752G>A	NCBI36
NG_008884.1:g.41146G>A
NG_008884.2:g.48168G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1489-37G>A MANE Select	ENSP00000272286.2:n.1489-37G>A
ENST00000272286.2:c.1489-37G>A	ENSP00000272286.2:n.1489-37G>A
NM_022437.2:c.1489-37G>A	NP_071882.1:n.1489-37G>A
XM_005264483.2:c.1486-37G>A	XP_005264540.1:n.1486-37G>A
XM_011533029.1:c.1501-37G>A	XP_011531331.1:n.1501-37G>A
XM_011533030.1:c.1498-37G>A	XP_011531332.1:n.1498-37G>A
XM_011533031.1:c.1273-37G>A	XP_011531333.1:n.1273-37G>A
XR_939707.1:n.1991-37G>A
NM_001357321.1:c.1486-37G>A	NP_001344250.1:n.1486-37G>A
XM_011533029.2:c.1501-37G>A	XP_011531331.1:n.1501-37G>A
XM_011533030.2:c.1498-37G>A	XP_011531332.1:n.1498-37G>A
XR_001738891.1:n.2005-37G>A
XR_939707.2:n.2005-37G>A
NM_022437.3:c.1489-37G>A MANE Select	NP_071882.1:n.1489-37G>A
NM_001357321.2:c.1486-37G>A	NP_001344250.1:n.1486-37G>A