Canonical Allele Identifier: CA418826348

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94041362-G-T
• MyVariant Identifiers: chr1:g.94506918G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041362G>T , CM000663.2:g.94041362G>T	GRCh38
NC_000001.10:g.94506918G>T , CM000663.1:g.94506918G>T	GRCh37
NC_000001.9:g.94279506G>T	NCBI36
NG_009073.1:g.84788C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3369C>A MANE Select	ENSP00000359245.3:p.Ala1123=
ENST00000370225.3:c.3369C>A	ENSP00000359245.3:p.Ala1123=
ENST00000536513.5:c.-64-1273C>A	ENSP00000439707.2:n.-64-1273C>A
NM_000350.2:c.3369C>A	NP_000341.2:p.Ala1123=
NM_000350.3:c.3369C>A MANE Select	NP_000341.2:p.Ala1123=