Canonical Allele Identifier: CA154393486

Gene:

Linked Data

• dbSNP Id: rs117082243
• gnomAD v2: 7-13440341-C-T
• gnomAD v3: 7-13400716-C-T
• gnomAD v4: 7-13400716-C-T
• MyVariant Identifiers: chr7:g.13440341C>T (hg19) ; chr7:g.13400716C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13400716C>T , CM000669.2:g.13400716C>T	GRCh38
NC_000007.13:g.13440341C>T , CM000669.1:g.13440341C>T	GRCh37
NC_000007.12:g.13406866C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.147+90393C>T