Canonical Allele Identifier: CA341279253
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2132773
ClinVar RCV Id: RCV003063874
MyVariant Identifiers: chr1:g.94528151G>C (hg19) chr1:g.94062595G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062595G>C , CM000663.2:g.94062595G>C GRCh38
NC_000001.10:g.94528151G>C , CM000663.1:g.94528151G>C GRCh37
NC_000001.9:g.94300739G>C NCBI36
NG_009073.1:g.63555C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1919C>G MANE Select ENSP00000359245.3:p.Pro640Arg
ENST00000649773.1:c.1919C>G ENSP00000496882.1:p.Pro640Arg
ENST00000370225.3:c.1919C>G ENSP00000359245.3:p.Pro640Arg
ENST00000536513.5:c.-65+579C>G ENSP00000439707.2:n.-65+579C>G
NM_000350.2:c.1919C>G NP_000341.2:p.Pro640Arg
NM_000350.3:c.1919C>G MANE Select NP_000341.2:p.Pro640Arg
Search 100 bp 5'
Search 100 bp 3'