Canonical Allele Identifier: CA227086
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99201
ClinVar RCV Id: RCV000085552
dbSNP Id: rs61752413
gnomAD v4: 1-94043339-A-G
MyVariant Identifiers: chr1:g.94508895A>G (hg19) chr1:g.94043339A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043339A>G , CM000663.2:g.94043339A>G GRCh38
NC_000001.10:g.94508895A>G , CM000663.1:g.94508895A>G GRCh37
NC_000001.9:g.94281483A>G NCBI36
NG_009073.1:g.82811T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3187T>C MANE Select ENSP00000359245.3:p.Ser1063Pro
ENST00000370225.3:c.3187T>C ENSP00000359245.3:p.Ser1063Pro
ENST00000536513.5:c.-64-3250T>C ENSP00000439707.2:n.-64-3250T>C
NM_000350.2:c.3187T>C NP_000341.2:p.Ser1063Pro
NM_000350.3:c.3187T>C MANE Select NP_000341.2:p.Ser1063Pro
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