Canonical Allele Identifier: CA253364

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 4970
• ClinVar RCV Id: RCV000005258 ; RCV000727975 ; RCV003407279
• dbSNP Id: rs137852990
• ExAC: 2:44079831 G / A
• gnomAD v2: 2-44079831-G-A
• gnomAD v3: 2-43852692-G-A
• gnomAD v4: 2-43852692-G-A
• MyVariant Identifiers: chr2:g.44079831G>A (hg19) ; chr2:g.43852692G>A (hg38)
• PubMed: PMID:11099417

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43852692G>A , CM000664.2:g.43852692G>A	GRCh38
NC_000002.11:g.44079831G>A , CM000664.1:g.44079831G>A	GRCh37
NC_000002.10:g.43933335G>A	NCBI36
NG_008884.1:g.18729G>A
NG_008884.2:g.25751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.788G>A MANE Select	ENSP00000272286.2:p.Arg263Gln
ENST00000644611.1:c.800G>A	ENSP00000495423.1:p.Arg267Gln
ENST00000272286.2:c.788G>A	ENSP00000272286.2:p.Arg263Gln
NM_022437.2:c.788G>A	NP_071882.1:p.Arg263Gln
XM_005264483.2:c.788G>A	XP_005264540.1:p.Arg263Gln
XM_011533029.1:c.800G>A	XP_011531331.1:p.Arg267Gln
XM_011533030.1:c.800G>A	XP_011531332.1:p.Arg267Gln
XM_011533031.1:c.572G>A	XP_011531333.1:p.Arg191Gln
XR_939707.1:n.1290G>A
NM_001357321.1:c.788G>A	NP_001344250.1:p.Arg263Gln
XM_011533029.2:c.800G>A	XP_011531331.1:p.Arg267Gln
XM_011533030.2:c.800G>A	XP_011531332.1:p.Arg267Gln
XR_001738891.1:n.1304G>A
XR_939707.2:n.1304G>A
NM_022437.3:c.788G>A MANE Select	NP_071882.1:p.Arg263Gln
NM_001357321.2:c.788G>A	NP_001344250.1:p.Arg263Gln