Canonical Allele Identifier: CA957950
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1038084
ClinVar RCV Id: RCV001341345
dbSNP Id: rs770774738
gnomAD v2: 1-94506917-C-T
gnomAD v3: 1-94041361-C-T
gnomAD v4: 1-94041361-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041361C>T , CM000663.2:g.94041361C>T GRCh38
NC_000001.10:g.94506917C>T , CM000663.1:g.94506917C>T GRCh37
NC_000001.9:g.94279505C>T NCBI36
NG_009073.1:g.84789G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3370G>A MANE Select ENSP00000359245.3:p.Asp1124Asn
ENST00000370225.3:c.3370G>A ENSP00000359245.3:p.Asp1124Asn
ENST00000536513.5:c.-64-1272G>A ENSP00000439707.2:n.-64-1272G>A
NM_000350.2:c.3370G>A NP_000341.2:p.Asp1124Asn
NM_000350.3:c.3370G>A MANE Select NP_000341.2:p.Asp1124Asn