Canonical Allele Identifier: CA418826263
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94506807C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041251C>G , CM000663.2:g.94041251C>G GRCh38
NC_000001.10:g.94506807C>G , CM000663.1:g.94506807C>G GRCh37
NC_000001.9:g.94279395C>G NCBI36
NG_009073.1:g.84899G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3480G>C MANE Select ENSP00000359245.3:p.Val1160=
ENST00000370225.3:c.3480G>C ENSP00000359245.3:p.Val1160=
ENST00000536513.5:c.-64-1162G>C ENSP00000439707.2:n.-64-1162G>C
NM_000350.2:c.3480G>C NP_000341.2:p.Val1160=
NM_000350.3:c.3480G>C MANE Select NP_000341.2:p.Val1160=
Search 100 bp 5'
Search 100 bp 3'