Canonical Allele Identifier: CA1636851

Gene: ABCG8

Linked Data

• dbSNP Id: rs778143236
• ExAC: 2:44066200 G / T
• gnomAD v2: 2-44066200-G-T
• gnomAD v3: 2-43839061-G-T
• gnomAD v4: 2-43839061-G-T
• MyVariant Identifiers: chr2:g.44066200G>T (hg19) ; chr2:g.43839061G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839061G>T , CM000664.2:g.43839061G>T	GRCh38
NC_000002.11:g.44066200G>T , CM000664.1:g.44066200G>T	GRCh37
NC_000002.10:g.43919704G>T	NCBI36
NG_008883.1:g.4759C>A
NG_008884.1:g.5098G>T
NG_008884.2:g.12120G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.8G>T MANE Select	ENSP00000272286.2:p.Gly3Val
ENST00000643284.1:n.521-5446G>T
ENST00000644611.1:c.76-5446G>T	ENSP00000495423.1:n.76-5446G>T
ENST00000272286.2:c.8G>T	ENSP00000272286.2:p.Gly3Val
NM_022437.2:c.8G>T	NP_071882.1:p.Gly3Val
XM_005264483.2:c.8G>T	XP_005264540.1:p.Gly3Val
XM_011533029.1:c.76-5446G>T	XP_011531331.1:n.76-5446G>T
XM_011533030.1:c.76-5446G>T	XP_011531332.1:n.76-5446G>T
XM_011533031.1:c.-153-5446G>T	XP_011531333.1:n.-153-5446G>T
XR_939707.1:n.566-5446G>T
NM_001357321.1:c.8G>T	NP_001344250.1:p.Gly3Val
XM_011533029.2:c.76-5446G>T	XP_011531331.1:n.76-5446G>T
XM_011533030.2:c.76-5446G>T	XP_011531332.1:n.76-5446G>T
XR_001738891.1:n.580-5446G>T
XR_939707.2:n.580-5446G>T
NM_022437.3:c.8G>T MANE Select	NP_071882.1:p.Gly3Val
NM_001357321.2:c.8G>T	NP_001344250.1:p.Gly3Val