Canonical Allele Identifier: CA202663803

Gene:

Linked Data

• dbSNP Id: rs188612130
• gnomAD v2: 10-7089011-C-T
• gnomAD v3: 10-7047049-C-T
• gnomAD v4: 10-7047049-C-T
• MyVariant Identifiers: chr10:g.7089011C>T (hg19) ; chr10:g.7047049C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.7047049C>T , CM000672.2:g.7047049C>T	GRCh38
NC_000010.10:g.7089011C>T , CM000672.1:g.7089011C>T	GRCh37
NC_000010.9:g.7129017C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_930623.1:n.173-16732G>A
XR_930624.1:n.171-16732G>A
XR_930625.1:n.172-16732G>A
XR_930626.1:n.168-16732G>A
XR_930627.1:n.173-16732G>A
XR_001747351.1:n.364-16732G>A
XR_001747352.1:n.364-16732G>A
XR_001747353.1:n.188-34393G>A
XR_001747354.1:n.364-16732G>A
XR_930623.2:n.364-16732G>A
XR_930624.2:n.364-16732G>A
XR_930625.2:n.364-16732G>A
XR_930626.2:n.364-16732G>A
XR_930627.2:n.364-16732G>A