Canonical Allele Identifier: CA2559218225

Gene: ABCA4

Linked Data

• dbSNP Id: rs2101057745
• gnomAD v3: 1-94047226-G-A
• gnomAD v4: 1-94047226-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047226G>A , CM000663.2:g.94047226G>A	GRCh38
NC_000001.10:g.94512782G>A , CM000663.1:g.94512782G>A	GRCh37
NC_000001.9:g.94285370G>A	NCBI36
NG_009073.1:g.78924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-133C>T MANE Select	ENSP00000359245.3:n.2744-133C>T
ENST00000649773.1:c.2522-133C>T	ENSP00000496882.1:n.2522-133C>T
ENST00000370225.3:c.2744-133C>T	ENSP00000359245.3:n.2744-133C>T
ENST00000536513.5:c.-64-7137C>T	ENSP00000439707.2:n.-64-7137C>T
NM_000350.2:c.2744-133C>T	NP_000341.2:n.2744-133C>T
NM_000350.3:c.2744-133C>T MANE Select	NP_000341.2:n.2744-133C>T