Canonical Allele Identifier: CA26840966
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs560489716
gnomAD v3: 1-94047136-A-G
gnomAD v4: 1-94047136-A-G
MyVariant Identifiers: chr1:g.94512692A>G (hg19) chr1:g.94047136A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047136A>G , CM000663.2:g.94047136A>G GRCh38
NC_000001.10:g.94512692A>G , CM000663.1:g.94512692A>G GRCh37
NC_000001.9:g.94285280A>G NCBI36
NG_009073.1:g.79014T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2744-43T>C MANE Select ENSP00000359245.3:n.2744-43T>C
ENST00000649773.1:c.2522-43T>C ENSP00000496882.1:n.2522-43T>C
ENST00000370225.3:c.2744-43T>C ENSP00000359245.3:n.2744-43T>C
ENST00000536513.5:c.-64-7047T>C ENSP00000439707.2:n.-64-7047T>C
NM_000350.2:c.2744-43T>C NP_000341.2:n.2744-43T>C
NM_000350.3:c.2744-43T>C MANE Select NP_000341.2:n.2744-43T>C
Search 100 bp 5'
Search 100 bp 3'