Canonical Allele Identifier: CA957462
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2985815
ClinVar RCV Id: RCV003841422
dbSNP Id: rs370767358
ExAC: 1:94487253 C / T
gnomAD v2: 1-94487253-C-T
gnomAD v3: 1-94021697-C-T
gnomAD v4: 1-94021697-C-T
MyVariant Identifiers: chr1:g.94487253C>T (hg19) chr1:g.94021697C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021697C>T , CM000663.2:g.94021697C>T GRCh38
NC_000001.10:g.94487253C>T , CM000663.1:g.94487253C>T GRCh37
NC_000001.9:g.94259841C>T NCBI36
NG_009073.1:g.104453G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4791G>A MANE Select ENSP00000359245.3:p.Glu1597=
ENST00000370225.3:c.4791G>A ENSP00000359245.3:p.Glu1597=
ENST00000460514.1:n.285G>A
ENST00000536513.5:c.1167G>A ENSP00000439707.2:p.Glu389=
NM_000350.2:c.4791G>A NP_000341.2:p.Glu1597=
NM_000350.3:c.4791G>A MANE Select NP_000341.2:p.Glu1597=
Search 100 bp 5'
Search 100 bp 3'