Canonical Allele Identifier: CA227076
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99195
ClinVar RCV Id: RCV000085544
dbSNP Id: rs61749458
MyVariant Identifiers: chr1:g.94509025C>A (hg19) chr1:g.94043469C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043469C>A , CM000663.2:g.94043469C>A GRCh38
NC_000001.10:g.94509025C>A , CM000663.1:g.94509025C>A GRCh37
NC_000001.9:g.94281613C>A NCBI36
NG_009073.1:g.82681G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3057G>T MANE Select ENSP00000359245.3:p.Thr1019=
ENST00000370225.3:c.3057G>T ENSP00000359245.3:p.Thr1019=
ENST00000536513.5:c.-64-3380G>T ENSP00000439707.2:n.-64-3380G>T
NM_000350.2:c.3057G>T NP_000341.2:p.Thr1019=
NM_000350.3:c.3057G>T MANE Select NP_000341.2:p.Thr1019=
Search 100 bp 5'
Search 100 bp 3'