Canonical Allele Identifier: CA418819054
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94056784-G-A
MyVariant Identifiers: chr1:g.94522340G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056784G>A , CM000663.2:g.94056784G>A GRCh38
NC_000001.10:g.94522340G>A , CM000663.1:g.94522340G>A GRCh37
NC_000001.9:g.94294928G>A NCBI36
NG_009073.1:g.69366C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2199C>T MANE Select ENSP00000359245.3:p.Leu733=
ENST00000649773.1:c.2161-1469C>T ENSP00000496882.1:n.2161-1469C>T
ENST00000370225.3:c.2199C>T ENSP00000359245.3:p.Leu733=
ENST00000536513.5:c.-65+6390C>T ENSP00000439707.2:n.-65+6390C>T
NM_000350.2:c.2199C>T NP_000341.2:p.Leu733=
NM_000350.3:c.2199C>T MANE Select NP_000341.2:p.Leu733=