Canonical Allele Identifier: CA226988
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99125
dbSNP Id: rs61749429

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056689C>T , CM000663.2:g.94056689C>T GRCh38
NC_000001.10:g.94522245C>T , CM000663.1:g.94522245C>T GRCh37
NC_000001.9:g.94294833C>T NCBI36
NG_009073.1:g.69461G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2294G>A MANE Select ENSP00000359245.3:p.Ser765Asn
ENST00000649773.1:c.2161-1374G>A ENSP00000496882.1:n.2161-1374G>A
ENST00000370225.3:c.2294G>A ENSP00000359245.3:p.Ser765Asn
ENST00000536513.5:c.-65+6485G>A ENSP00000439707.2:n.-65+6485G>A
NM_000350.2:c.2294G>A NP_000341.2:p.Ser765Asn
NM_000350.3:c.2294G>A MANE Select NP_000341.2:p.Ser765Asn