Canonical Allele Identifier: CA1004552173
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1661103079
gnomAD v3: 1-94060835-A-C
gnomAD v4: 1-94060835-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060835A>C , CM000663.2:g.94060835A>C GRCh38
NC_000001.10:g.94526391A>C , CM000663.1:g.94526391A>C GRCh37
NC_000001.9:g.94298979A>C NCBI36
NG_009073.1:g.65315T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1938-76T>G MANE Select ENSP00000359245.3:n.1938-76T>G
ENST00000649773.1:c.1938-76T>G ENSP00000496882.1:n.1938-76T>G
ENST00000370225.3:c.1938-76T>G ENSP00000359245.3:n.1938-76T>G
ENST00000472033.1:n.58-76T>G
ENST00000536513.5:c.-65+2339T>G ENSP00000439707.2:n.-65+2339T>G
NM_000350.2:c.1938-76T>G NP_000341.2:n.1938-76T>G
NM_000350.3:c.1938-76T>G MANE Select NP_000341.2:n.1938-76T>G
Search 100 bp 5'
Search 100 bp 3'