Canonical Allele Identifier: CA957922
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs757421299
gnomAD v2: 1-94506778-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041222C>T , CM000663.2:g.94041222C>T GRCh38
NC_000001.10:g.94506778C>T , CM000663.1:g.94506778C>T GRCh37
NC_000001.9:g.94279366C>T NCBI36
NG_009073.1:g.84928G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3509G>A MANE Select ENSP00000359245.3:p.Arg1170Lys
ENST00000370225.3:c.3509G>A ENSP00000359245.3:p.Arg1170Lys
ENST00000536513.5:c.-64-1133G>A ENSP00000439707.2:n.-64-1133G>A
NM_000350.2:c.3509G>A NP_000341.2:p.Arg1170Lys
NM_000350.3:c.3509G>A MANE Select NP_000341.2:p.Arg1170Lys