Canonical Allele Identifier: CA565006050

Gene:

Linked Data

• dbSNP Id: rs888813975
• gnomAD v2: 6-465969-C-G
• gnomAD v3: 6-465969-C-G
• gnomAD v4: 6-465969-C-G
• MyVariant Identifiers: chr6:g.465969C>G (hg19) ; chr6:g.465969C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.465969C>G , CM000668.2:g.465969C>G	GRCh38
NC_000006.11:g.465969C>G , CM000668.1:g.465969C>G	GRCh37
NC_000006.10:g.410969C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_926364.1:n.2714+12244C>G
XR_926365.1:n.2548+12244C>G
XR_001743914.1:n.482-9239C>G