Canonical Allele Identifier: CA418811284
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1660699379
gnomAD v4: 1-94046888-T-C
MyVariant Identifiers: chr1:g.94512444T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046888T>C , CM000663.2:g.94046888T>C GRCh38
NC_000001.10:g.94512444T>C , CM000663.1:g.94512444T>C GRCh37
NC_000001.9:g.94285032T>C NCBI36
NG_009073.1:g.79262A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2918+31A>G MANE Select ENSP00000359245.3:n.2918+31A>G
ENST00000649773.1:c.2696+31A>G ENSP00000496882.1:n.2696+31A>G
ENST00000370225.3:c.2918+31A>G ENSP00000359245.3:n.2918+31A>G
ENST00000536513.5:c.-64-6799A>G ENSP00000439707.2:n.-64-6799A>G
NM_000350.2:c.2918+31A>G NP_000341.2:n.2918+31A>G
NM_000350.3:c.2918+31A>G MANE Select NP_000341.2:n.2918+31A>G