Canonical Allele Identifier: CA602083523
Gene:

Linked Data

dbSNP Id: rs1466012247
gnomAD v2: 11-115943274-G-C
gnomAD v3: 11-116072556-G-C
gnomAD v4: 11-116072556-G-C
MyVariant Identifiers: chr11:g.115943274G>C (hg19) chr11:g.116072556G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072556G>C , CM000673.2:g.116072556G>C GRCh38
NC_000011.9:g.115943274G>C , CM000673.1:g.115943274G>C GRCh37
NC_000011.8:g.115448484G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+458C>G
XR_948056.1:n.311-5351C>G
XR_948057.1:n.97+553C>G
XR_001748401.1:n.192+458C>G
XR_948055.2:n.192+458C>G
XR_948056.2:n.314-5351C>G
XR_948057.2:n.97+553C>G
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