Canonical Allele Identifier: CA418821764
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94486963C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021407C>A , CM000663.2:g.94021407C>A GRCh38
NC_000001.10:g.94486963C>A , CM000663.1:g.94486963C>A GRCh37
NC_000001.9:g.94259551C>A NCBI36
NG_009073.1:g.104743G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4851G>T MANE Select ENSP00000359245.3:p.Val1617=
ENST00000370225.3:c.4851G>T ENSP00000359245.3:p.Val1617=
ENST00000460514.1:n.345G>T
ENST00000536513.5:c.1227G>T ENSP00000439707.2:p.Val409=
NM_000350.2:c.4851G>T NP_000341.2:p.Val1617=
NM_000350.3:c.4851G>T MANE Select NP_000341.2:p.Val1617=