Canonical Allele Identifier: CA422484398
Gene:

Linked Data

dbSNP Id: rs1388325508
gnomAD v3: 1-192800598-A-C
gnomAD v4: 1-192800598-A-C
MyVariant Identifiers: chr1:g.192769728A>C (hg19) chr1:g.192800598A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.192800598A>C , CM000663.2:g.192800598A>C GRCh38
NC_000001.10:g.192769728A>C , CM000663.1:g.192769728A>C GRCh37
NC_000001.9:g.191036351A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000429211.2:n.28A>C
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