Canonical Allele Identifier: CA134548239

Gene:

Linked Data

• dbSNP Id: rs866256531
• gnomAD v3: 6-8169392-A-G
• gnomAD v4: 6-8169392-A-G
• MyVariant Identifiers: chr6:g.8169625A>G (hg19) ; chr6:g.8169392A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.8169392A>G , CM000668.2:g.8169392A>G	GRCh38
NC_000006.11:g.8169625A>G , CM000668.1:g.8169625A>G	GRCh37
NC_000006.10:g.8114624A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_926440.1:n.82+11132A>G
XR_926441.1:n.189+1472A>G
XR_926442.1:n.82+11132A>G
XR_926443.1:n.82+11132A>G
XR_001743950.1:n.179+1472A>G
XR_926440.2:n.74+11132A>G
XR_926441.2:n.179+1472A>G
XR_926443.2:n.83+11132A>G