Canonical Allele Identifier: CA422484391
Gene:

Linked Data

dbSNP Id: rs1305892779
gnomAD v3: 1-192800597-A-C
gnomAD v4: 1-192800597-A-C
MyVariant Identifiers: chr1:g.192769727A>C (hg19) chr1:g.192800597A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.192800597A>C , CM000663.2:g.192800597A>C GRCh38
NC_000001.10:g.192769727A>C , CM000663.1:g.192769727A>C GRCh37
NC_000001.9:g.191036350A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000429211.2:n.27A>C
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