Canonical Allele Identifier: CA134173691

Gene:

Linked Data

• dbSNP Id: rs985772674
• gnomAD v3: 6-11943345-G-A
• gnomAD v4: 6-11943345-G-A
• MyVariant Identifiers: chr6:g.11943578G>A (hg19) ; chr6:g.11943345G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.11943345G>A , CM000668.2:g.11943345G>A	GRCh38
NC_000006.11:g.11943578G>A , CM000668.1:g.11943578G>A	GRCh37
NC_000006.10:g.12051564G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001743976.1:n.348-8190G>A