Canonical Allele Identifier: CA942547554

Gene:

Linked Data

• dbSNP Id: rs950977954
• gnomAD v3: 11-116072478-C-G
• gnomAD v4: 11-116072478-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116072478C>G , CM000673.2:g.116072478C>G	GRCh38
NC_000011.9:g.115943196C>G , CM000673.1:g.115943196C>G	GRCh37
NC_000011.8:g.115448406C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948055.1:n.192+536G>C
XR_948056.1:n.311-5273G>C
XR_948057.1:n.97+631G>C
XR_001748401.1:n.192+536G>C
XR_948055.2:n.192+536G>C
XR_948056.2:n.314-5273G>C
XR_948057.2:n.97+631G>C