Canonical Allele Identifier: CA134548275

Gene:

Linked Data

• dbSNP Id: rs962766650
• gnomAD v2: 6-8169881-C-A
• gnomAD v3: 6-8169648-C-A
• gnomAD v4: 6-8169648-C-A
• MyVariant Identifiers: chr6:g.8169881C>A (hg19) ; chr6:g.8169648C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.8169648C>A , CM000668.2:g.8169648C>A	GRCh38
NC_000006.11:g.8169881C>A , CM000668.1:g.8169881C>A	GRCh37
NC_000006.10:g.8114880C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_926440.1:n.82+11388C>A
XR_926441.1:n.189+1728C>A
XR_926442.1:n.82+11388C>A
XR_926443.1:n.82+11388C>A
XR_001743950.1:n.179+1728C>A
XR_926440.2:n.74+11388C>A
XR_926441.2:n.179+1728C>A
XR_926443.2:n.83+11388C>A