Canonical Allele Identifier: CA1637390

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 499929
• ClinVar RCV Id: RCV000596406 ; RCV001137121 ; RCV003330815 ; RCV003952976
• dbSNP Id: rs147194762
• ExAC: 2:44100999 A / G
• gnomAD v2: 2-44100999-A-G
• gnomAD v3: 2-43873860-A-G
• gnomAD v4: 2-43873860-A-G
• MyVariant Identifiers: chr2:g.44100999A>G (hg19) ; chr2:g.43873860A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43873860A>G , CM000664.2:g.43873860A>G	GRCh38
NC_000002.11:g.44100999A>G , CM000664.1:g.44100999A>G	GRCh37
NC_000002.10:g.43954503A>G	NCBI36
NG_008884.1:g.39897A>G
NG_008884.2:g.46919A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1285A>G MANE Select	ENSP00000272286.2:p.Met429Val
ENST00000644611.1:c.1297A>G	ENSP00000495423.1:p.Met433Val
ENST00000272286.2:c.1285A>G	ENSP00000272286.2:p.Met429Val
NM_022437.2:c.1285A>G	NP_071882.1:p.Met429Val
XM_005264483.2:c.1282A>G	XP_005264540.1:p.Met428Val
XM_011533029.1:c.1297A>G	XP_011531331.1:p.Met433Val
XM_011533030.1:c.1294A>G	XP_011531332.1:p.Met432Val
XM_011533031.1:c.1069A>G	XP_011531333.1:p.Met357Val
XR_939707.1:n.1787A>G
NM_001357321.1:c.1282A>G	NP_001344250.1:p.Met428Val
XM_011533029.2:c.1297A>G	XP_011531331.1:p.Met433Val
XM_011533030.2:c.1294A>G	XP_011531332.1:p.Met432Val
XR_001738891.1:n.1801A>G
XR_939707.2:n.1801A>G
NM_022437.3:c.1285A>G MANE Select	NP_071882.1:p.Met429Val
NM_001357321.2:c.1282A>G	NP_001344250.1:p.Met428Val