Canonical Allele Identifier: CA341290917
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041312C>G , CM000663.2:g.94041312C>G GRCh38
NC_000001.10:g.94506868C>G , CM000663.1:g.94506868C>G GRCh37
NC_000001.9:g.94279456C>G NCBI36
NG_009073.1:g.84838G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3419G>C MANE Select ENSP00000359245.3:p.Cys1140Ser
ENST00000370225.3:c.3419G>C ENSP00000359245.3:p.Cys1140Ser
ENST00000536513.5:c.-64-1223G>C ENSP00000439707.2:n.-64-1223G>C
NM_000350.2:c.3419G>C NP_000341.2:p.Cys1140Ser
NM_000350.3:c.3419G>C MANE Select NP_000341.2:p.Cys1140Ser