Canonical Allele Identifier: CA552053256

Gene:

Linked Data

• dbSNP Id: rs1431707707
• gnomAD v2: 4-63423870-C-A
• gnomAD v3: 4-62558152-C-A
• gnomAD v4: 4-62558152-C-A
• MyVariant Identifiers: chr4:g.63423870C>A (hg19) ; chr4:g.62558152C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.62558152C>A , CM000666.2:g.62558152C>A	GRCh38
NC_000004.11:g.63423870C>A , CM000666.1:g.63423870C>A	GRCh37
NC_000004.10:g.63106465C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938814.1:n.161-5692C>A