Canonical Allele Identifier: CA341292440
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1489203291
gnomAD v3: 1-94043359-T-A
gnomAD v4: 1-94043359-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043359T>A , CM000663.2:g.94043359T>A GRCh38
NC_000001.10:g.94508915T>A , CM000663.1:g.94508915T>A GRCh37
NC_000001.9:g.94281503T>A NCBI36
NG_009073.1:g.82791A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3167A>T MANE Select ENSP00000359245.3:p.Asn1056Ile
ENST00000370225.3:c.3167A>T ENSP00000359245.3:p.Asn1056Ile
ENST00000536513.5:c.-64-3270A>T ENSP00000439707.2:n.-64-3270A>T
NM_000350.2:c.3167A>T NP_000341.2:p.Asn1056Ile
NM_000350.3:c.3167A>T MANE Select NP_000341.2:p.Asn1056Ile