Canonical Allele Identifier: CA524384764

Gene: ABCA4

Linked Data

• dbSNP Id: rs1251978029
• gnomAD v2: 1-94512791-A-G
• gnomAD v3: 1-94047235-A-G
• gnomAD v4: 1-94047235-A-G
• MyVariant Identifiers: chr1:g.94512791A>G (hg19) ; chr1:g.94047235A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047235A>G , CM000663.2:g.94047235A>G	GRCh38
NC_000001.10:g.94512791A>G , CM000663.1:g.94512791A>G	GRCh37
NC_000001.9:g.94285379A>G	NCBI36
NG_009073.1:g.78915T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-142T>C MANE Select	ENSP00000359245.3:n.2744-142T>C
ENST00000649773.1:c.2522-142T>C	ENSP00000496882.1:n.2522-142T>C
ENST00000370225.3:c.2744-142T>C	ENSP00000359245.3:n.2744-142T>C
ENST00000536513.5:c.-64-7146T>C	ENSP00000439707.2:n.-64-7146T>C
NM_000350.2:c.2744-142T>C	NP_000341.2:n.2744-142T>C
NM_000350.3:c.2744-142T>C MANE Select	NP_000341.2:n.2744-142T>C