Canonical Allele Identifier: CA1086018031

Gene:

Linked Data

• dbSNP Id: rs1766143263
• gnomAD v3: 6-11943678-C-G
• gnomAD v4: 6-11943678-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.11943678C>G , CM000668.2:g.11943678C>G	GRCh38
NC_000006.11:g.11943911C>G , CM000668.1:g.11943911C>G	GRCh37
NC_000006.10:g.12051897C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001743976.1:n.348-7857C>G