Canonical Allele Identifier: CA46434910

Gene: ABCG8

Linked Data

• dbSNP Id: rs545378037
• gnomAD v2: 2-44073583-G-C
• gnomAD v3: 2-43846444-G-C
• gnomAD v4: 2-43846444-G-C
• MyVariant Identifiers: chr2:g.44073583G>C (hg19) ; chr2:g.43846444G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846444G>C , CM000664.2:g.43846444G>C	GRCh38
NC_000002.11:g.44073583G>C , CM000664.1:g.44073583G>C	GRCh37
NC_000002.10:g.43927087G>C	NCBI36
NG_008884.1:g.12481G>C
NG_008884.2:g.19503G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.322+133G>C MANE Select	ENSP00000272286.2:n.322+133G>C
ENST00000643284.1:n.912G>C
ENST00000644611.1:c.334+133G>C	ENSP00000495423.1:n.334+133G>C
ENST00000272286.2:c.322+133G>C	ENSP00000272286.2:n.322+133G>C
NM_022437.2:c.322+133G>C	NP_071882.1:n.322+133G>C
XM_005264483.2:c.322+133G>C	XP_005264540.1:n.322+133G>C
XM_011533029.1:c.334+133G>C	XP_011531331.1:n.334+133G>C
XM_011533030.1:c.334+133G>C	XP_011531332.1:n.334+133G>C
XM_011533031.1:c.106+133G>C	XP_011531333.1:n.106+133G>C
XR_939707.1:n.824+133G>C
NM_001357321.1:c.322+133G>C	NP_001344250.1:n.322+133G>C
XM_011533029.2:c.334+133G>C	XP_011531331.1:n.334+133G>C
XM_011533030.2:c.334+133G>C	XP_011531332.1:n.334+133G>C
XR_001738891.1:n.838+133G>C
XR_939707.2:n.838+133G>C
NM_022437.3:c.322+133G>C MANE Select	NP_071882.1:n.322+133G>C
NM_001357321.2:c.322+133G>C	NP_001344250.1:n.322+133G>C