Canonical Allele Identifier: CA227163
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99257
ClinVar RCV Id: RCV000085610
dbSNP Id: rs61750132
gnomAD v2: 1-94496605-G-A
gnomAD v4: 1-94031049-G-A
MyVariant Identifiers: chr1:g.94496605G>A (hg19) chr1:g.94031049G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031049G>A , CM000663.2:g.94031049G>A GRCh38
NC_000001.10:g.94496605G>A , CM000663.1:g.94496605G>A GRCh37
NC_000001.9:g.94269193G>A NCBI36
NG_009073.1:g.95101C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4200C>T MANE Select ENSP00000359245.3:p.Tyr1400=
ENST00000370225.3:c.4200C>T ENSP00000359245.3:p.Tyr1400=
ENST00000536513.5:c.576C>T ENSP00000439707.2:p.Tyr192=
NM_000350.2:c.4200C>T NP_000341.2:p.Tyr1400=
NM_000350.3:c.4200C>T MANE Select NP_000341.2:p.Tyr1400=
Search 100 bp 5'
Search 100 bp 3'