Canonical Allele Identifier: CA341282977
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 950804
ClinVar RCV Id: RCV001222600
dbSNP Id: rs1659887933
MyVariant Identifiers: chr1:g.94486840G>C (hg19) chr1:g.94021284G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021284G>C , CM000663.2:g.94021284G>C GRCh38
NC_000001.10:g.94486840G>C , CM000663.1:g.94486840G>C GRCh37
NC_000001.9:g.94259428G>C NCBI36
NG_009073.1:g.104866C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4974C>G MANE Select ENSP00000359245.3:p.Ser1658Arg
ENST00000370225.3:c.4974C>G ENSP00000359245.3:p.Ser1658Arg
ENST00000460514.1:n.468C>G
ENST00000470771.1:n.84C>G
ENST00000536513.5:c.1350C>G ENSP00000439707.2:p.Ser450Arg
NM_000350.2:c.4974C>G NP_000341.2:p.Ser1658Arg
NM_000350.3:c.4974C>G MANE Select NP_000341.2:p.Ser1658Arg
Search 100 bp 5'
Search 100 bp 3'