Canonical Allele Identifier: CA1636854

Gene: ABCG8

Linked Data

• dbSNP Id: rs771255227
• ExAC: 2:44066213 G / A
• gnomAD v2: 2-44066213-G-A
• gnomAD v4: 2-43839074-G-A
• MyVariant Identifiers: chr2:g.44066213G>A (hg19) ; chr2:g.43839074G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839074G>A , CM000664.2:g.43839074G>A	GRCh38
NC_000002.11:g.44066213G>A , CM000664.1:g.44066213G>A	GRCh37
NC_000002.10:g.43919717G>A	NCBI36
NG_008883.1:g.4746C>T
NG_008884.1:g.5111G>A
NG_008884.2:g.12133G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.21G>A MANE Select	ENSP00000272286.2:p.Glu7=
ENST00000643284.1:n.521-5433G>A
ENST00000644611.1:c.76-5433G>A	ENSP00000495423.1:n.76-5433G>A
ENST00000272286.2:c.21G>A	ENSP00000272286.2:p.Glu7=
NM_022437.2:c.21G>A	NP_071882.1:p.Glu7=
XM_005264483.2:c.21G>A	XP_005264540.1:p.Glu7=
XM_011533029.1:c.76-5433G>A	XP_011531331.1:n.76-5433G>A
XM_011533030.1:c.76-5433G>A	XP_011531332.1:n.76-5433G>A
XM_011533031.1:c.-153-5433G>A	XP_011531333.1:n.-153-5433G>A
XR_939707.1:n.566-5433G>A
NM_001357321.1:c.21G>A	NP_001344250.1:p.Glu7=
XM_011533029.2:c.76-5433G>A	XP_011531331.1:n.76-5433G>A
XM_011533030.2:c.76-5433G>A	XP_011531332.1:n.76-5433G>A
XR_001738891.1:n.580-5433G>A
XR_939707.2:n.580-5433G>A
NM_022437.3:c.21G>A MANE Select	NP_071882.1:p.Glu7=
NM_001357321.2:c.21G>A	NP_001344250.1:p.Glu7=