Canonical Allele Identifier: CA958132
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2968413
ClinVar RCV Id: RCV003821539 RCV004542291
dbSNP Id: rs1553191096
ExAC: 1:94512528 C / T
gnomAD v2: 1-94512528-C-T
MyVariant Identifiers: chr1:g.94512528C>T (hg19) chr1:g.94512528_94512529delinsTT (hg19) chr1:g.94046972_94046973delinsTT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046972C>T , CM000663.2:g.94046972C>T GRCh38
NC_000001.10:g.94512528C>T , CM000663.1:g.94512528C>T GRCh37
NC_000001.9:g.94285116C>T NCBI36
NG_009073.1:g.79178G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2865G>A MANE Select ENSP00000359245.3:p.Glu955=
ENST00000649773.1:c.2643G>A ENSP00000496882.1:p.Glu881=
ENST00000370225.3:c.2865G>A ENSP00000359245.3:p.Glu955=
ENST00000536513.5:c.-64-6883G>A ENSP00000439707.2:n.-64-6883G>A
NM_000350.2:c.2865G>A NP_000341.2:p.Glu955=
NM_000350.3:c.2865G>A MANE Select NP_000341.2:p.Glu955=
Search 100 bp 5'
Search 100 bp 3'