Canonical Allele Identifier: CA1637285

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 336075
• ClinVar RCV Id: RCV000333238 ; RCV000595016 ; RCV002436203 ; RCV003950162 ; RCV002519974
• dbSNP Id: rs554680915
• ExAC: 2:44099267 T / C
• gnomAD v2: 2-44099267-T-C
• gnomAD v3: 2-43872128-T-C
• gnomAD v4: 2-43872128-T-C
• MyVariant Identifiers: chr2:g.44099267T>C (hg19) ; chr2:g.43872128T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43872128T>C , CM000664.2:g.43872128T>C	GRCh38
NC_000002.11:g.44099267T>C , CM000664.1:g.44099267T>C	GRCh37
NC_000002.10:g.43952771T>C	NCBI36
NG_008884.1:g.38165T>C
NG_008884.2:g.45187T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1117T>C MANE Select	ENSP00000272286.2:p.Cys373Arg
ENST00000644611.1:c.1129T>C	ENSP00000495423.1:p.Cys377Arg
ENST00000272286.2:c.1117T>C	ENSP00000272286.2:p.Cys373Arg
NM_022437.2:c.1117T>C	NP_071882.1:p.Cys373Arg
XM_005264483.2:c.1117T>C	XP_005264540.1:p.Cys373Arg
XM_011533029.1:c.1129T>C	XP_011531331.1:p.Cys377Arg
XM_011533030.1:c.1129T>C	XP_011531332.1:p.Cys377Arg
XM_011533031.1:c.901T>C	XP_011531333.1:p.Cys301Arg
XR_939707.1:n.1619T>C
NM_001357321.1:c.1117T>C	NP_001344250.1:p.Cys373Arg
XM_011533029.2:c.1129T>C	XP_011531331.1:p.Cys377Arg
XM_011533030.2:c.1129T>C	XP_011531332.1:p.Cys377Arg
XR_001738891.1:n.1633T>C
XR_939707.2:n.1633T>C
NM_022437.3:c.1117T>C MANE Select	NP_071882.1:p.Cys373Arg
NM_001357321.2:c.1117T>C	NP_001344250.1:p.Cys373Arg