Canonical Allele Identifier: CA1637453

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 282034
• ClinVar RCV Id: RCV000301884 ; RCV000305538 ; RCV002502099 ; RCV002392797 ; RCV003401237 ; RCV003137881
• dbSNP Id: rs150890296
• ExAC: 2:44101570 A / G
• gnomAD v2: 2-44101570-A-G
• gnomAD v3: 2-43874431-A-G
• gnomAD v4: 2-43874431-A-G
• MyVariant Identifiers: chr2:g.44101570A>G (hg19) ; chr2:g.43874431A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43874431A>G , CM000664.2:g.43874431A>G	GRCh38
NC_000002.11:g.44101570A>G , CM000664.1:g.44101570A>G	GRCh37
NC_000002.10:g.43955074A>G	NCBI36
NG_008884.1:g.40468A>G
NG_008884.2:g.47490A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1436A>G MANE Select	ENSP00000272286.2:p.Tyr479Cys
ENST00000272286.2:c.1436A>G	ENSP00000272286.2:p.Tyr479Cys
NM_022437.2:c.1436A>G	NP_071882.1:p.Tyr479Cys
XM_005264483.2:c.1433A>G	XP_005264540.1:p.Tyr478Cys
XM_011533029.1:c.1448A>G	XP_011531331.1:p.Tyr483Cys
XM_011533030.1:c.1445A>G	XP_011531332.1:p.Tyr482Cys
XM_011533031.1:c.1220A>G	XP_011531333.1:p.Tyr407Cys
XR_939707.1:n.1938A>G
NM_001357321.1:c.1433A>G	NP_001344250.1:p.Tyr478Cys
XM_011533029.2:c.1448A>G	XP_011531331.1:p.Tyr483Cys
XM_011533030.2:c.1445A>G	XP_011531332.1:p.Tyr482Cys
XR_001738891.1:n.1952A>G
XR_939707.2:n.1952A>G
NM_022437.3:c.1436A>G MANE Select	NP_071882.1:p.Tyr479Cys
NM_001357321.2:c.1433A>G	NP_001344250.1:p.Tyr478Cys