Canonical Allele Identifier: CA1085752596

Gene:

Linked Data

• dbSNP Id: rs1759189235
• gnomAD v3: 6-8169376-C-G
• gnomAD v4: 6-8169376-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.8169376C>G , CM000668.2:g.8169376C>G	GRCh38
NC_000006.11:g.8169609C>G , CM000668.1:g.8169609C>G	GRCh37
NC_000006.10:g.8114608C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_926440.1:n.82+11116C>G
XR_926441.1:n.189+1456C>G
XR_926442.1:n.82+11116C>G
XR_926443.1:n.82+11116C>G
XR_001743950.1:n.179+1456C>G
XR_926440.2:n.74+11116C>G
XR_926441.2:n.179+1456C>G
XR_926443.2:n.83+11116C>G