Canonical Allele Identifier: CA692339958

Gene:

Linked Data

• dbSNP Id: rs1458309370
• gnomAD v3: 12-80069329-C-T
• gnomAD v4: 12-80069329-C-T
• MyVariant Identifiers: chr12:g.80463109C>T (hg19) ; chr12:g.80069329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80069329C>T , CM000674.2:g.80069329C>T	GRCh38
NC_000012.11:g.80463109C>T , CM000674.1:g.80463109C>T	GRCh37
NC_000012.10:g.78987240C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_945140.1:n.456+8147C>T
XR_945141.1:n.1758+8147C>T