Canonical Allele Identifier: CA341276390
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1676856
ClinVar RCV Id: RCV002222772
dbSNP Id: rs886044763
MyVariant Identifiers: chr1:g.94463499G>C (hg19) chr1:g.93997943G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997943G>C , CM000663.2:g.93997943G>C GRCh38
NC_000001.10:g.94463499G>C , CM000663.1:g.94463499G>C GRCh37
NC_000001.9:g.94236087G>C NCBI36
NG_009073.1:g.128207C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6647C>G MANE Select ENSP00000359245.3:p.Ala2216Gly
ENST00000370225.3:c.6647C>G ENSP00000359245.3:p.Ala2216Gly
ENST00000536513.5:c.3023C>G ENSP00000439707.2:p.Ala1008Gly
NM_000350.2:c.6647C>G NP_000341.2:p.Ala2216Gly
NM_000350.3:c.6647C>G MANE Select NP_000341.2:p.Ala2216Gly
Search 100 bp 5'
Search 100 bp 3'