Canonical Allele Identifier: CA10613863

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 336077
• ClinVar RCV Id: RCV000344050 ; RCV002057698
• dbSNP Id: rs886056033
• gnomAD v4: 2-43872298-G-A
• MyVariant Identifiers: chr2:g.44099437G>A (hg19) ; chr2:g.43872298G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43872298G>A , CM000664.2:g.43872298G>A	GRCh38
NC_000002.11:g.44099437G>A , CM000664.1:g.44099437G>A	GRCh37
NC_000002.10:g.43952941G>A	NCBI36
NG_008884.1:g.38335G>A
NG_008884.2:g.45357G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1203G>A MANE Select	ENSP00000272286.2:p.Thr401=
ENST00000644611.1:c.1215G>A	ENSP00000495423.1:p.Thr405=
ENST00000272286.2:c.1203G>A	ENSP00000272286.2:p.Thr401=
NM_022437.2:c.1203G>A	NP_071882.1:p.Thr401=
XM_005264483.2:c.1200G>A	XP_005264540.1:p.Thr400=
XM_011533029.1:c.1215G>A	XP_011531331.1:p.Thr405=
XM_011533030.1:c.1212G>A	XP_011531332.1:p.Thr404=
XM_011533031.1:c.987G>A	XP_011531333.1:p.Thr329=
XR_939707.1:n.1705G>A
NM_001357321.1:c.1200G>A	NP_001344250.1:p.Thr400=
XM_011533029.2:c.1215G>A	XP_011531331.1:p.Thr405=
XM_011533030.2:c.1212G>A	XP_011531332.1:p.Thr404=
XR_001738891.1:n.1719G>A
XR_939707.2:n.1719G>A
NM_022437.3:c.1203G>A MANE Select	NP_071882.1:p.Thr401=
NM_001357321.2:c.1200G>A	NP_001344250.1:p.Thr400=