Canonical Allele Identifier: CA1181422701
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1570378399
gnomAD v4: 1-94047190-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047190A>C , CM000663.2:g.94047190A>C GRCh38
NC_000001.10:g.94512746A>C , CM000663.1:g.94512746A>C GRCh37
NC_000001.9:g.94285334A>C NCBI36
NG_009073.1:g.78960T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2744-97T>G MANE Select ENSP00000359245.3:n.2744-97T>G
ENST00000649773.1:c.2522-97T>G ENSP00000496882.1:n.2522-97T>G
ENST00000370225.3:c.2744-97T>G ENSP00000359245.3:n.2744-97T>G
ENST00000536513.5:c.-64-7101T>G ENSP00000439707.2:n.-64-7101T>G
NM_000350.2:c.2744-97T>G NP_000341.2:n.2744-97T>G
NM_000350.3:c.2744-97T>G MANE Select NP_000341.2:n.2744-97T>G
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