Canonical Allele Identifier: CA418817827
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1516156
ClinVar RCV Id: RCV002023740
dbSNP Id: rs2101069554
MyVariant Identifiers: chr1:g.94522157C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056601C>A , CM000663.2:g.94056601C>A GRCh38
NC_000001.10:g.94522157C>A , CM000663.1:g.94522157C>A GRCh37
NC_000001.9:g.94294745C>A NCBI36
NG_009073.1:g.69549G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2382G>T MANE Select ENSP00000359245.3:p.Val794=
ENST00000649773.1:c.2161-1286G>T ENSP00000496882.1:n.2161-1286G>T
ENST00000370225.3:c.2382G>T ENSP00000359245.3:p.Val794=
ENST00000536513.5:c.-65+6573G>T ENSP00000439707.2:n.-65+6573G>T
NM_000350.2:c.2382G>T NP_000341.2:p.Val794=
NM_000350.3:c.2382G>T MANE Select NP_000341.2:p.Val794=
Search 100 bp 5'
Search 100 bp 3'