Canonical Allele Identifier: CA229981170
Gene:

Linked Data

dbSNP Id: rs1035649277
gnomAD v3: 11-116072639-A-G
gnomAD v4: 11-116072639-A-G
MyVariant Identifiers: chr11:g.115943357A>G (hg19) chr11:g.116072639A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072639A>G , CM000673.2:g.116072639A>G GRCh38
NC_000011.9:g.115943357A>G , CM000673.1:g.115943357A>G GRCh37
NC_000011.8:g.115448567A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+375T>C
XR_948056.1:n.311-5434T>C
XR_948057.1:n.97+470T>C
XR_001748401.1:n.192+375T>C
XR_948055.2:n.192+375T>C
XR_948056.2:n.314-5434T>C
XR_948057.2:n.97+470T>C
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