Canonical Allele Identifier: CA933180723

Gene:

Linked Data

• dbSNP Id: rs11199254
• gnomAD v3: 10-120283977-C-A
• gnomAD v4: 10-120283977-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.120283977C>A , CM000672.2:g.120283977C>A	GRCh38
NC_000010.10:g.122043489C>A , CM000672.1:g.122043489C>A	GRCh37
NC_000010.9:g.122033479C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_946364.1:n.672-4413C>A
XR_946365.1:n.128-4413C>A
XR_001747605.1:n.625-4413C>A
XR_001747606.1:n.916-4413C>A