Canonical Allele Identifier: CA346670197

Gene: ABCG8

Linked Data

• dbSNP Id: rs1669915589
• MyVariant Identifiers: chr2:g.44102285A>G (hg19) ; chr2:g.43875146A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875146A>G , CM000664.2:g.43875146A>G	GRCh38
NC_000002.11:g.44102285A>G , CM000664.1:g.44102285A>G	GRCh37
NC_000002.10:g.43955789A>G	NCBI36
NG_008884.1:g.41183A>G
NG_008884.2:g.48205A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1489A>G MANE Select	ENSP00000272286.2:p.Ile497Val
ENST00000272286.2:c.1489A>G	ENSP00000272286.2:p.Ile497Val
NM_022437.2:c.1489A>G	NP_071882.1:p.Ile497Val
XM_005264483.2:c.1486A>G	XP_005264540.1:p.Ile496Val
XM_011533029.1:c.1501A>G	XP_011531331.1:p.Ile501Val
XM_011533030.1:c.1498A>G	XP_011531332.1:p.Ile500Val
XM_011533031.1:c.1273A>G	XP_011531333.1:p.Ile425Val
XR_939707.1:n.1991A>G
NM_001357321.1:c.1486A>G	NP_001344250.1:p.Ile496Val
XM_011533029.2:c.1501A>G	XP_011531331.1:p.Ile501Val
XM_011533030.2:c.1498A>G	XP_011531332.1:p.Ile500Val
XR_001738891.1:n.2005A>G
XR_939707.2:n.2005A>G
NM_022437.3:c.1489A>G MANE Select	NP_071882.1:p.Ile497Val
NM_001357321.2:c.1486A>G	NP_001344250.1:p.Ile496Val