Canonical Allele Identifier: CA26840728

Gene: ABCA4

Linked Data

• dbSNP Id: rs1039960303
• gnomAD v3: 1-94046829-G-A
• gnomAD v4: 1-94046829-G-A
• MyVariant Identifiers: chr1:g.94512385G>A (hg19) ; chr1:g.94046829G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046829G>A , CM000663.2:g.94046829G>A	GRCh38
NC_000001.10:g.94512385G>A , CM000663.1:g.94512385G>A	GRCh37
NC_000001.9:g.94284973G>A	NCBI36
NG_009073.1:g.79321C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2918+90C>T MANE Select	ENSP00000359245.3:n.2918+90C>T
ENST00000649773.1:c.2696+90C>T	ENSP00000496882.1:n.2696+90C>T
ENST00000370225.3:c.2918+90C>T	ENSP00000359245.3:n.2918+90C>T
ENST00000536513.5:c.-64-6740C>T	ENSP00000439707.2:n.-64-6740C>T
NM_000350.2:c.2918+90C>T	NP_000341.2:n.2918+90C>T
NM_000350.3:c.2918+90C>T MANE Select	NP_000341.2:n.2918+90C>T