Canonical Allele Identifier: CA565609048

Gene:

Linked Data

• dbSNP Id: rs1472650555
• gnomAD v2: 6-11943560-C-T
• gnomAD v3: 6-11943327-C-T
• gnomAD v4: 6-11943327-C-T
• MyVariant Identifiers: chr6:g.11943560C>T (hg19) ; chr6:g.11943327C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.11943327C>T , CM000668.2:g.11943327C>T	GRCh38
NC_000006.11:g.11943560C>T , CM000668.1:g.11943560C>T	GRCh37
NC_000006.10:g.12051546C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001743976.1:n.348-8208C>T