Canonical Allele Identifier: CA341275580
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3101629
ClinVar RCV Id: RCV004390966

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047070G>C , CM000663.2:g.94047070G>C GRCh38
NC_000001.10:g.94512626G>C , CM000663.1:g.94512626G>C GRCh37
NC_000001.9:g.94285214G>C NCBI36
NG_009073.1:g.79080C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2767C>G MANE Select ENSP00000359245.3:p.Pro923Ala
ENST00000649773.1:c.2545C>G ENSP00000496882.1:p.Pro849Ala
ENST00000370225.3:c.2767C>G ENSP00000359245.3:p.Pro923Ala
ENST00000536513.5:c.-64-6981C>G ENSP00000439707.2:n.-64-6981C>G
NM_000350.2:c.2767C>G NP_000341.2:p.Pro923Ala
NM_000350.3:c.2767C>G MANE Select NP_000341.2:p.Pro923Ala