Canonical Allele Identifier: CA341278623
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1044396
ClinVar RCV Id: RCV001348632
dbSNP Id: rs1557786289
gnomAD v4: 1-94060634-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060634T>A , CM000663.2:g.94060634T>A GRCh38
NC_000001.10:g.94526190T>A , CM000663.1:g.94526190T>A GRCh37
NC_000001.9:g.94298778T>A NCBI36
NG_009073.1:g.65516A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2063A>T MANE Select ENSP00000359245.3:p.Asn688Ile
ENST00000649773.1:c.2063A>T ENSP00000496882.1:p.Asn688Ile
ENST00000370225.3:c.2063A>T ENSP00000359245.3:p.Asn688Ile
ENST00000472033.1:n.183A>T
ENST00000536513.5:c.-65+2540A>T ENSP00000439707.2:n.-65+2540A>T
NM_000350.2:c.2063A>T NP_000341.2:p.Asn688Ile
NM_000350.3:c.2063A>T MANE Select NP_000341.2:p.Asn688Ile