Canonical Allele Identifier: CA942571905

Gene:

Linked Data

• dbSNP Id: rs1861335115
• gnomAD v3: 11-116442673-C-T
• gnomAD v4: 11-116442673-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116442673C>T , CM000673.2:g.116442673C>T	GRCh38
NC_000011.9:g.116313390C>T , CM000673.1:g.116313390C>T	GRCh37
NC_000011.8:g.115818600C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001748403.1:n.349+31204G>A