Canonical Allele Identifier: CA346670213

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102294G>C (hg19) ; chr2:g.43875155G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875155G>C , CM000664.2:g.43875155G>C	GRCh38
NC_000002.11:g.44102294G>C , CM000664.1:g.44102294G>C	GRCh37
NC_000002.10:g.43955798G>C	NCBI36
NG_008884.1:g.41192G>C
NG_008884.2:g.48214G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1498G>C MANE Select	ENSP00000272286.2:p.Glu500Gln
ENST00000272286.2:c.1498G>C	ENSP00000272286.2:p.Glu500Gln
NM_022437.2:c.1498G>C	NP_071882.1:p.Glu500Gln
XM_005264483.2:c.1495G>C	XP_005264540.1:p.Glu499Gln
XM_011533029.1:c.1510G>C	XP_011531331.1:p.Glu504Gln
XM_011533030.1:c.1507G>C	XP_011531332.1:p.Glu503Gln
XM_011533031.1:c.1282G>C	XP_011531333.1:p.Glu428Gln
XR_939707.1:n.2000G>C
NM_001357321.1:c.1495G>C	NP_001344250.1:p.Glu499Gln
XM_011533029.2:c.1510G>C	XP_011531331.1:p.Glu504Gln
XM_011533030.2:c.1507G>C	XP_011531332.1:p.Glu503Gln
XR_001738891.1:n.2014G>C
XR_939707.2:n.2014G>C
NM_022437.3:c.1498G>C MANE Select	NP_071882.1:p.Glu500Gln
NM_001357321.2:c.1495G>C	NP_001344250.1:p.Glu499Gln