Canonical Allele Identifier: CA524697529

Gene: ABCA4

Linked Data

• dbSNP Id: rs1227837667
• gnomAD v2: 1-94512779-A-C
• gnomAD v3: 1-94047223-A-C
• gnomAD v4: 1-94047223-A-C
• MyVariant Identifiers: chr1:g.94512779A>C (hg19) ; chr1:g.94047223A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047223A>C , CM000663.2:g.94047223A>C	GRCh38
NC_000001.10:g.94512779A>C , CM000663.1:g.94512779A>C	GRCh37
NC_000001.9:g.94285367A>C	NCBI36
NG_009073.1:g.78927T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-130T>G MANE Select	ENSP00000359245.3:n.2744-130T>G
ENST00000649773.1:c.2522-130T>G	ENSP00000496882.1:n.2522-130T>G
ENST00000370225.3:c.2744-130T>G	ENSP00000359245.3:n.2744-130T>G
ENST00000536513.5:c.-64-7134T>G	ENSP00000439707.2:n.-64-7134T>G
NM_000350.2:c.2744-130T>G	NP_000341.2:n.2744-130T>G
NM_000350.3:c.2744-130T>G MANE Select	NP_000341.2:n.2744-130T>G