Canonical Allele Identifier: CA46474190

Gene: ABCG8

Linked Data

• dbSNP Id: rs998348045
• gnomAD v4: 2-43877598-G-C
• MyVariant Identifiers: chr2:g.44104737G>C (hg19) ; chr2:g.43877598G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877598G>C , CM000664.2:g.43877598G>C	GRCh38
NC_000002.11:g.44104737G>C , CM000664.1:g.44104737G>C	GRCh37
NC_000002.10:g.43958241G>C	NCBI36
NG_008884.1:g.43635G>C
NG_008884.2:g.50657G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1794G>C MANE Select	ENSP00000272286.2:p.Trp598Cys
ENST00000272286.2:c.1794G>C	ENSP00000272286.2:p.Trp598Cys
NM_022437.2:c.1794G>C	NP_071882.1:p.Trp598Cys
XM_005264483.2:c.1791G>C	XP_005264540.1:p.Trp597Cys
XM_011533029.1:c.1806G>C	XP_011531331.1:p.Trp602Cys
XM_011533030.1:c.1803G>C	XP_011531332.1:p.Trp601Cys
XM_011533031.1:c.1578G>C	XP_011531333.1:p.Trp526Cys
XR_939707.1:n.2296G>C
NM_001357321.1:c.1791G>C	NP_001344250.1:p.Trp597Cys
XM_011533029.2:c.1806G>C	XP_011531331.1:p.Trp602Cys
XM_011533030.2:c.1803G>C	XP_011531332.1:p.Trp601Cys
XR_001738891.1:n.2310G>C
XR_939707.2:n.2310G>C
NM_022437.3:c.1794G>C MANE Select	NP_071882.1:p.Trp598Cys
NM_001357321.2:c.1791G>C	NP_001344250.1:p.Trp597Cys