Canonical Allele Identifier: CA134548244

Gene:

Linked Data

• dbSNP Id: rs557673596
• gnomAD v3: 6-8169405-A-G
• gnomAD v4: 6-8169405-A-G
• MyVariant Identifiers: chr6:g.8169638A>G (hg19) ; chr6:g.8169405A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.8169405A>G , CM000668.2:g.8169405A>G	GRCh38
NC_000006.11:g.8169638A>G , CM000668.1:g.8169638A>G	GRCh37
NC_000006.10:g.8114637A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_926440.1:n.82+11145A>G
XR_926441.1:n.189+1485A>G
XR_926442.1:n.82+11145A>G
XR_926443.1:n.82+11145A>G
XR_001743950.1:n.179+1485A>G
XR_926440.2:n.74+11145A>G
XR_926441.2:n.179+1485A>G
XR_926443.2:n.83+11145A>G