Canonical Allele Identifier: CA958161
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 849603
dbSNP Id: rs376526710
gnomAD v2: 1-94512634-C-T
gnomAD v3: 1-94047078-C-T
gnomAD v4: 1-94047078-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047078C>T , CM000663.2:g.94047078C>T GRCh38
NC_000001.10:g.94512634C>T , CM000663.1:g.94512634C>T GRCh37
NC_000001.9:g.94285222C>T NCBI36
NG_009073.1:g.79072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2759G>A MANE Select ENSP00000359245.3:p.Arg920His
ENST00000649773.1:c.2537G>A ENSP00000496882.1:p.Arg846His
ENST00000370225.3:c.2759G>A ENSP00000359245.3:p.Arg920His
ENST00000536513.5:c.-64-6989G>A ENSP00000439707.2:n.-64-6989G>A
NM_000350.2:c.2759G>A NP_000341.2:p.Arg920His
NM_000350.3:c.2759G>A MANE Select NP_000341.2:p.Arg920His