Canonical Allele Identifier: CA16603704
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 377405
dbSNP Id: rs1057520212

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94015769G>C , CM000663.2:g.94015769G>C GRCh38
NC_000001.10:g.94481325G>C , CM000663.1:g.94481325G>C GRCh37
NC_000001.9:g.94253913G>C NCBI36
NG_009073.1:g.110381C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5282C>G MANE Select ENSP00000359245.3:p.Pro1761Arg
ENST00000370225.3:c.5282C>G ENSP00000359245.3:p.Pro1761Arg
ENST00000536513.5:c.1658C>G ENSP00000439707.2:p.Pro553Arg
NM_000350.2:c.5282C>G NP_000341.2:p.Pro1761Arg
NM_000350.3:c.5282C>G MANE Select NP_000341.2:p.Pro1761Arg