Canonical Allele Identifier: CA341284057
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94487497T>A (hg19) chr1:g.94021941T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021941T>A , CM000663.2:g.94021941T>A GRCh38
NC_000001.10:g.94487497T>A , CM000663.1:g.94487497T>A GRCh37
NC_000001.9:g.94260085T>A NCBI36
NG_009073.1:g.104209A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4678A>T MANE Select ENSP00000359245.3:p.Ile1560Phe
ENST00000370225.3:c.4678A>T ENSP00000359245.3:p.Ile1560Phe
ENST00000460514.1:n.172A>T
ENST00000536513.5:c.1054A>T ENSP00000439707.2:p.Ile352Phe
NM_000350.2:c.4678A>T NP_000341.2:p.Ile1560Phe
NM_000350.3:c.4678A>T MANE Select NP_000341.2:p.Ile1560Phe
Search 100 bp 5'
Search 100 bp 3'