Canonical Allele Identifier: CA341285646
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2202814
ClinVar RCV Id: RCV002634306
MyVariant Identifiers: chr1:g.94577136C>T (hg19) chr1:g.94111580C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111580C>T , CM000663.2:g.94111580C>T GRCh38
NC_000001.10:g.94577136C>T , CM000663.1:g.94577136C>T GRCh37
NC_000001.9:g.94349724C>T NCBI36
NG_009073.1:g.14570G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-1G>A MANE Select ENSP00000359245.3:n.161-1G>A
ENST00000649773.1:c.161-1G>A ENSP00000496882.1:n.161-1G>A
ENST00000370225.3:c.161-1G>A ENSP00000359245.3:n.161-1G>A
NM_000350.2:c.161-1G>A NP_000341.2:n.161-1G>A
NM_000350.3:c.161-1G>A MANE Select NP_000341.2:n.161-1G>A
Search 100 bp 5'
Search 100 bp 3'