Canonical Allele Identifier: CA958124
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 236096
dbSNP Id: rs201471607

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046943T>C , CM000663.2:g.94046943T>C GRCh38
NC_000001.10:g.94512499T>C , CM000663.1:g.94512499T>C GRCh37
NC_000001.9:g.94285087T>C NCBI36
NG_009073.1:g.79207A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2894A>G MANE Select ENSP00000359245.3:p.Asn965Ser
ENST00000649773.1:c.2672A>G ENSP00000496882.1:p.Asn891Ser
ENST00000370225.3:c.2894A>G ENSP00000359245.3:p.Asn965Ser
ENST00000536513.5:c.-64-6854A>G ENSP00000439707.2:p.=
NM_000350.2:c.2894A>G NP_000341.2:p.Asn965Ser
NM_000350.3:c.2894A>G MANE Select NP_000341.2:p.Asn965Ser