Canonical Allele Identifier: CA26845013
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 941485
ClinVar RCV Id: RCV001211275
dbSNP Id: rs151145662
gnomAD v2: 1-94487221-T-C
gnomAD v3: 1-94021665-T-C
gnomAD v4: 1-94021665-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021665T>C , CM000663.2:g.94021665T>C GRCh38
NC_000001.10:g.94487221T>C , CM000663.1:g.94487221T>C GRCh37
NC_000001.9:g.94259809T>C NCBI36
NG_009073.1:g.104485A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4823A>G MANE Select ENSP00000359245.3:p.His1608Arg
ENST00000370225.3:c.4823A>G ENSP00000359245.3:p.His1608Arg
ENST00000460514.1:n.317A>G
ENST00000536513.5:c.1199A>G ENSP00000439707.2:p.His400Arg
NM_000350.2:c.4823A>G NP_000341.2:p.His1608Arg
NM_000350.3:c.4823A>G MANE Select NP_000341.2:p.His1608Arg