Canonical Allele Identifier: CA134173686

Gene:

Linked Data

• dbSNP Id: rs188831871
• gnomAD v2: 6-11943538-C-G
• gnomAD v3: 6-11943305-C-G
• gnomAD v4: 6-11943305-C-G
• MyVariant Identifiers: chr6:g.11943538C>G (hg19) ; chr6:g.11943305C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.11943305C>G , CM000668.2:g.11943305C>G	GRCh38
NC_000006.11:g.11943538C>G , CM000668.1:g.11943538C>G	GRCh37
NC_000006.10:g.12051524C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001743976.1:n.348-8230C>G