Canonical Allele Identifier: CA418824286
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 806164
ClinVar RCV Id: RCV000994042
dbSNP Id: rs1571263368
gnomAD v4: 1-94029484-T-C
MyVariant Identifiers: chr1:g.94495040T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029484T>C , CM000663.2:g.94029484T>C GRCh38
NC_000001.10:g.94495040T>C , CM000663.1:g.94495040T>C GRCh37
NC_000001.9:g.94267628T>C NCBI36
NG_009073.1:g.96666A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4500A>G MANE Select ENSP00000359245.3:p.Pro1500=
ENST00000370225.3:c.4500A>G ENSP00000359245.3:p.Pro1500=
ENST00000536513.5:c.876A>G ENSP00000439707.2:p.Pro292=
NM_000350.2:c.4500A>G NP_000341.2:p.Pro1500=
NM_000350.3:c.4500A>G MANE Select NP_000341.2:p.Pro1500=
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