Canonical Allele Identifier: CA346670951

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 499212
• ClinVar RCV Id: RCV000597504 ; RCV004024758
• dbSNP Id: rs200005264
• gnomAD v4: 2-43877656-G-C
• MyVariant Identifiers: chr2:g.44104795G>C (hg19) ; chr2:g.43877656G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877656G>C , CM000664.2:g.43877656G>C	GRCh38
NC_000002.11:g.44104795G>C , CM000664.1:g.44104795G>C	GRCh37
NC_000002.10:g.43958299G>C	NCBI36
NG_008884.1:g.43693G>C
NG_008884.2:g.50715G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1852G>C MANE Select	ENSP00000272286.2:p.Gly618Arg
ENST00000272286.2:c.1852G>C	ENSP00000272286.2:p.Gly618Arg
NM_022437.2:c.1852G>C	NP_071882.1:p.Gly618Arg
XM_005264483.2:c.1849G>C	XP_005264540.1:p.Gly617Arg
XM_011533029.1:c.1864G>C	XP_011531331.1:p.Gly622Arg
XM_011533030.1:c.1861G>C	XP_011531332.1:p.Gly621Arg
XM_011533031.1:c.1636G>C	XP_011531333.1:p.Gly546Arg
XR_939707.1:n.2354G>C
NM_001357321.1:c.1849G>C	NP_001344250.1:p.Gly617Arg
XM_011533029.2:c.1864G>C	XP_011531331.1:p.Gly622Arg
XM_011533030.2:c.1861G>C	XP_011531332.1:p.Gly621Arg
XR_001738891.1:n.2368G>C
XR_939707.2:n.2368G>C
NM_022437.3:c.1852G>C MANE Select	NP_071882.1:p.Gly618Arg
NM_001357321.2:c.1849G>C	NP_001344250.1:p.Gly617Arg