Canonical Allele Identifier: CA802223422

Gene:

Linked Data

• dbSNP Id: rs400028
• gnomAD v3: 5-114513597-C-A
• gnomAD v4: 5-114513597-C-A
• MyVariant Identifiers: chr5:g.113849294C>A (hg19) ; chr5:g.114513597C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.114513597C>A , CM000667.2:g.114513597C>A	GRCh38
NC_000005.9:g.113849294C>A , CM000667.1:g.113849294C>A	GRCh37
NC_000005.8:g.113877193C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_130785.1:n.343-17419G>T