Canonical Allele Identifier: CA418824979
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94030481-G-A
MyVariant Identifiers: chr1:g.94496037G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030481G>A , CM000663.2:g.94030481G>A GRCh38
NC_000001.10:g.94496037G>A , CM000663.1:g.94496037G>A GRCh37
NC_000001.9:g.94268625G>A NCBI36
NG_009073.1:g.95669C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4299C>T MANE Select ENSP00000359245.3:p.Val1433=
ENST00000370225.3:c.4299C>T ENSP00000359245.3:p.Val1433=
ENST00000536513.5:c.675C>T ENSP00000439707.2:p.Val225=
NM_000350.2:c.4299C>T NP_000341.2:p.Val1433=
NM_000350.3:c.4299C>T MANE Select NP_000341.2:p.Val1433=
Search 100 bp 5'
Search 100 bp 3'