Canonical Allele Identifier: CA552053273

Gene:

Linked Data

• dbSNP Id: rs1448372655
• gnomAD v2: 4-63423964-C-T
• MyVariant Identifiers: chr4:g.63423964C>T (hg19) ; chr4:g.62558246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.62558246C>T , CM000666.2:g.62558246C>T	GRCh38
NC_000004.11:g.63423964C>T , CM000666.1:g.63423964C>T	GRCh37
NC_000004.10:g.63106559C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938814.1:n.161-5598C>T