Canonical Allele Identifier: CA341283098
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94486899A>C (hg19) chr1:g.94021343A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021343A>C , CM000663.2:g.94021343A>C GRCh38
NC_000001.10:g.94486899A>C , CM000663.1:g.94486899A>C GRCh37
NC_000001.9:g.94259487A>C NCBI36
NG_009073.1:g.104807T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4915T>G MANE Select ENSP00000359245.3:p.Leu1639Val
ENST00000370225.3:c.4915T>G ENSP00000359245.3:p.Leu1639Val
ENST00000460514.1:n.409T>G
ENST00000470771.1:n.25T>G
ENST00000536513.5:c.1291T>G ENSP00000439707.2:p.Leu431Val
NM_000350.2:c.4915T>G NP_000341.2:p.Leu1639Val
NM_000350.3:c.4915T>G MANE Select NP_000341.2:p.Leu1639Val
Search 100 bp 5'
Search 100 bp 3'