Canonical Allele Identifier: CA119135
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7894
dbSNP Id: rs61751374
gnomAD v2: 1-94508969-G-A
gnomAD v3: 1-94043413-G-A
gnomAD v4: 1-94043413-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043413G>A , CM000663.2:g.94043413G>A GRCh38
NC_000001.10:g.94508969G>A , CM000663.1:g.94508969G>A GRCh37
NC_000001.9:g.94281557G>A NCBI36
NG_009073.1:g.82737C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3113C>T MANE Select ENSP00000359245.3:p.Ala1038Val
ENST00000370225.3:c.3113C>T ENSP00000359245.3:p.Ala1038Val
ENST00000536513.5:c.-64-3324C>T ENSP00000439707.2:n.-64-3324C>T
NM_000350.2:c.3113C>T NP_000341.2:p.Ala1038Val
NM_000350.3:c.3113C>T MANE Select NP_000341.2:p.Ala1038Val