Canonical Allele Identifier: CA934286460

Gene:

Linked Data

• dbSNP Id: rs1862670445
• gnomAD v3: 11-747023-C-G
• gnomAD v4: 11-747023-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.747023C>G , CM000673.2:g.747023C>G	GRCh38
NC_000011.9:g.747023C>G , CM000673.1:g.747023C>G	GRCh37
NC_000011.8:g.737023C>G	NCBI36
NG_008160.1:g.4592C>G

Transcript Alleles

HGVS	Amino-acid change
XR_930963.1:n.259+174C>G