Canonical Allele Identifier: CA341291256
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3101713
ClinVar RCV Id: RCV004391050

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041374G>C , CM000663.2:g.94041374G>C GRCh38
NC_000001.10:g.94506930G>C , CM000663.1:g.94506930G>C GRCh37
NC_000001.9:g.94279518G>C NCBI36
NG_009073.1:g.84776C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3357C>G MANE Select ENSP00000359245.3:p.His1119Gln
ENST00000370225.3:c.3357C>G ENSP00000359245.3:p.His1119Gln
ENST00000536513.5:c.-64-1285C>G ENSP00000439707.2:n.-64-1285C>G
NM_000350.2:c.3357C>G NP_000341.2:p.His1119Gln
NM_000350.3:c.3357C>G MANE Select NP_000341.2:p.His1119Gln