Canonical Allele Identifier: CA1637156

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 291264
• ClinVar RCV Id: RCV000262892 ; RCV000318546 ; RCV001094726 ; RCV002494900 ; RCV002365329 ; RCV003949962
• dbSNP Id: rs34754243
• ExAC: 2:44079755 G / A
• gnomAD v2: 2-44079755-G-A
• gnomAD v3: 2-43852616-G-A
• gnomAD v4: 2-43852616-G-A
• COSMIC: COSM3426476
• MyVariant Identifiers: chr2:g.44079755G>A (hg19) ; chr2:g.43852616G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43852616G>A , CM000664.2:g.43852616G>A	GRCh38
NC_000002.11:g.44079755G>A , CM000664.1:g.44079755G>A	GRCh37
NC_000002.10:g.43933259G>A	NCBI36
NG_008884.1:g.18653G>A
NG_008884.2:g.25675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.712G>A MANE Select	ENSP00000272286.2:p.Glu238Lys
ENST00000644611.1:c.724G>A	ENSP00000495423.1:p.Glu242Lys
ENST00000272286.2:c.712G>A	ENSP00000272286.2:p.Glu238Lys
NM_022437.2:c.712G>A	NP_071882.1:p.Glu238Lys
XM_005264483.2:c.712G>A	XP_005264540.1:p.Glu238Lys
XM_011533029.1:c.724G>A	XP_011531331.1:p.Glu242Lys
XM_011533030.1:c.724G>A	XP_011531332.1:p.Glu242Lys
XM_011533031.1:c.496G>A	XP_011531333.1:p.Glu166Lys
XR_939707.1:n.1214G>A
NM_001357321.1:c.712G>A	NP_001344250.1:p.Glu238Lys
XM_011533029.2:c.724G>A	XP_011531331.1:p.Glu242Lys
XM_011533030.2:c.724G>A	XP_011531332.1:p.Glu242Lys
XR_001738891.1:n.1228G>A
XR_939707.2:n.1228G>A
NM_022437.3:c.712G>A MANE Select	NP_071882.1:p.Glu238Lys
NM_001357321.2:c.712G>A	NP_001344250.1:p.Glu238Lys