Canonical Allele Identifier: CA958507

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298258
• ClinVar RCV Id: RCV000286324 ; RCV000321513 ; RCV000378419 ; RCV001073691 ; RCV001303441 ; RCV001590914 ; RCV003323503
• dbSNP Id: rs138157885
• ExAC: 1:94543278 G / A
• gnomAD v2: 1-94543278-G-A
• gnomAD v3: 1-94077722-G-A
• gnomAD v4: 1-94077722-G-A
• MyVariant Identifiers: chr1:g.94543278G>A (hg19) ; chr1:g.94077722G>A (hg38)
• PubMed: PMID:18024811 ; PMID:22334370 ; PMID:26780318

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94077722G>A , CM000663.2:g.94077722G>A	GRCh38
NC_000001.10:g.94543278G>A , CM000663.1:g.94543278G>A	GRCh37
NC_000001.9:g.94315866G>A	NCBI36
NG_009073.1:g.48428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1522C>T MANE Select	ENSP00000359245.3:p.Arg508Cys
ENST00000649773.1:c.1522C>T	ENSP00000496882.1:p.Arg508Cys
ENST00000370225.3:c.1522C>T	ENSP00000359245.3:p.Arg508Cys
NM_000350.2:c.1522C>T	NP_000341.2:p.Arg508Cys
NM_000350.3:c.1522C>T MANE Select	NP_000341.2:p.Arg508Cys