Canonical Allele Identifier: CA740499351
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1161314444
MyVariant Identifiers: chr1:g.94506666T>C (hg19) chr1:g.94041110T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041110T>C , CM000663.2:g.94041110T>C GRCh38
NC_000001.10:g.94506666T>C , CM000663.1:g.94506666T>C GRCh37
NC_000001.9:g.94279254T>C NCBI36
NG_009073.1:g.85040A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3522+99A>G MANE Select ENSP00000359245.3:n.3522+99A>G
ENST00000370225.3:c.3522+99A>G ENSP00000359245.3:n.3522+99A>G
ENST00000536513.5:c.-64-1021A>G ENSP00000439707.2:n.-64-1021A>G
NM_000350.2:c.3522+99A>G NP_000341.2:n.3522+99A>G
NM_000350.3:c.3522+99A>G MANE Select NP_000341.2:n.3522+99A>G
Search 100 bp 5'
Search 100 bp 3'