Canonical Allele Identifier: CA287548491
Gene:

Linked Data

dbSNP Id: rs946956793
gnomAD v3: 17-8137406-G-C
gnomAD v4: 17-8137406-G-C
MyVariant Identifiers: chr17:g.8040724G>C (hg19) chr17:g.8137406G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137406G>C , CM000679.2:g.8137406G>C GRCh38
NC_000017.10:g.8040724G>C , CM000679.1:g.8040724G>C GRCh37
NC_000017.9:g.7981449G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1443G>C
XR_934203.1:n.70-2071G>C
XR_934202.2:n.414-1443G>C
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