Canonical Allele Identifier: CA418816806
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2816888
ClinVar RCV Id: RCV003711008
dbSNP Id: rs1192500569
gnomAD v2: 1-94476854-G-A
gnomAD v4: 1-94011298-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011298G>A , CM000663.2:g.94011298G>A GRCh38
NC_000001.10:g.94476854G>A , CM000663.1:g.94476854G>A GRCh37
NC_000001.9:g.94249442G>A NCBI36
NG_009073.1:g.114852C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5548C>T MANE Select ENSP00000359245.3:p.Leu1850=
ENST00000370225.3:c.5548C>T ENSP00000359245.3:p.Leu1850=
ENST00000536513.5:c.1924C>T ENSP00000439707.2:p.Leu642=
NM_000350.2:c.5548C>T NP_000341.2:p.Leu1850=
NM_000350.3:c.5548C>T MANE Select NP_000341.2:p.Leu1850=