Canonical Allele Identifier: CA98367512

Gene:

Linked Data

• dbSNP Id: rs187221544
• gnomAD v2: 4-63423550-C-T
• gnomAD v3: 4-62557832-C-T
• gnomAD v4: 4-62557832-C-T
• MyVariant Identifiers: chr4:g.63423550C>T (hg19) ; chr4:g.62557832C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.62557832C>T , CM000666.2:g.62557832C>T	GRCh38
NC_000004.11:g.63423550C>T , CM000666.1:g.63423550C>T	GRCh37
NC_000004.10:g.63106145C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938814.1:n.161-6012C>T