Canonical Allele Identifier: CA958855

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 374737
• ClinVar RCV Id: RCV000416105 ; RCV000764208
• dbSNP Id: rs138359497
• ExAC: 1:94574205 G / A
• gnomAD v2: 1-94574205-G-A
• gnomAD v3: 1-94108649-G-A
• gnomAD v4: 1-94108649-G-A
• MyVariant Identifiers: chr1:g.94574205G>A (hg19) ; chr1:g.94108649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94108649G>A , CM000663.2:g.94108649G>A	GRCh38
NC_000001.10:g.94574205G>A , CM000663.1:g.94574205G>A	GRCh37
NC_000001.9:g.94346793G>A	NCBI36
NG_009073.1:g.17501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.370C>T MANE Select	ENSP00000359245.3:p.Arg124Cys
ENST00000649773.1:c.370C>T	ENSP00000496882.1:p.Arg124Cys
ENST00000370225.3:c.370C>T	ENSP00000359245.3:p.Arg124Cys
NM_000350.2:c.370C>T	NP_000341.2:p.Arg124Cys
NM_000350.3:c.370C>T MANE Select	NP_000341.2:p.Arg124Cys