Canonical Allele Identifier: CA341285401
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 875885
ClinVar RCV Id: RCV001100158
dbSNP Id: rs1156558540
gnomAD v3: 1-94111465-C-T
gnomAD v4: 1-94111465-C-T
MyVariant Identifiers: chr1:g.94577021C>T (hg19) chr1:g.94111465C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111465C>T , CM000663.2:g.94111465C>T GRCh38
NC_000001.10:g.94577021C>T , CM000663.1:g.94577021C>T GRCh37
NC_000001.9:g.94349609C>T NCBI36
NG_009073.1:g.14685G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.275G>A MANE Select ENSP00000359245.3:p.Gly92Glu
ENST00000649773.1:c.275G>A ENSP00000496882.1:p.Gly92Glu
ENST00000370225.3:c.275G>A ENSP00000359245.3:p.Gly92Glu
NM_000350.2:c.275G>A NP_000341.2:p.Gly92Glu
NM_000350.3:c.275G>A MANE Select NP_000341.2:p.Gly92Glu
Search 100 bp 5'
Search 100 bp 3'