Canonical Allele Identifier: CA1111626502

Gene:

Linked Data

• dbSNP Id: rs1799796940
• gnomAD v3: 8-20735011-C-T
• gnomAD v4: 8-20735011-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20735011C>T , CM000670.2:g.20735011C>T	GRCh38
NC_000008.10:g.20592522C>T , CM000670.1:g.20592522C>T	GRCh37
NC_000008.9:g.20636802C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949569.3:n.72-55435C>T