Canonical Allele Identifier: CA144319776

Gene:

Linked Data

• dbSNP Id: rs1906252
• gnomAD v2: 6-98550289-C-A
• gnomAD v3: 6-98102413-C-A
• gnomAD v4: 6-98102413-C-A
• MyVariant Identifiers: chr6:g.98550289C>A (hg19) ; chr6:g.98102413C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98102413C>A , CM000668.2:g.98102413C>A	GRCh38
NC_000006.11:g.98550289C>A , CM000668.1:g.98550289C>A	GRCh37
NC_000006.10:g.98657010C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_245563.2:n.456+3143C>A
XR_942809.1:n.456+3143C>A