Canonical Allele Identifier: CA341283563
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1436331
ClinVar RCV Id: RCV001987320
dbSNP Id: rs2101023492
MyVariant Identifiers: chr1:g.94487201T>C (hg19) chr1:g.94021645T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021645T>C , CM000663.2:g.94021645T>C GRCh38
NC_000001.10:g.94487201T>C , CM000663.1:g.94487201T>C GRCh37
NC_000001.9:g.94259789T>C NCBI36
NG_009073.1:g.104505A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4843A>G MANE Select ENSP00000359245.3:p.Ile1615Val
ENST00000370225.3:c.4843A>G ENSP00000359245.3:p.Ile1615Val
ENST00000460514.1:n.337A>G
ENST00000536513.5:c.1219A>G ENSP00000439707.2:p.Ile407Val
NM_000350.2:c.4843A>G NP_000341.2:p.Ile1615Val
NM_000350.3:c.4843A>G MANE Select NP_000341.2:p.Ile1615Val
Search 100 bp 5'
Search 100 bp 3'