Canonical Allele Identifier: CA227410
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99465
ClinVar RCV Id: RCV000085825
dbSNP Id: rs61751379
ExAC: 1:94463648 G / C
gnomAD v2: 1-94463648-G-C
gnomAD v3: 1-93998092-G-C
gnomAD v4: 1-93998092-G-C
MyVariant Identifiers: chr1:g.94463648G>C (hg19) chr1:g.93998092G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93998092G>C , CM000663.2:g.93998092G>C GRCh38
NC_000001.10:g.94463648G>C , CM000663.1:g.94463648G>C GRCh37
NC_000001.9:g.94236236G>C NCBI36
NG_009073.1:g.128058C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6498C>G MANE Select ENSP00000359245.3:p.Ile2166Met
ENST00000370225.3:c.6498C>G ENSP00000359245.3:p.Ile2166Met
ENST00000536513.5:c.2874C>G ENSP00000439707.2:p.Ile958Met
NM_000350.2:c.6498C>G NP_000341.2:p.Ile2166Met
NM_000350.3:c.6498C>G MANE Select NP_000341.2:p.Ile2166Met
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