Canonical Allele Identifier: CA908188432

Gene:

Linked Data

• dbSNP Id: rs1442998310
• gnomAD v3: 3-53057072-A-C
• gnomAD v4: 3-53057072-A-C
• MyVariant Identifiers: chr3:g.53091088A>C (hg19) ; chr3:g.53057072A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057072A>C , CM000665.2:g.53057072A>C	GRCh38
NC_000003.11:g.53091088A>C , CM000665.1:g.53091088A>C	GRCh37
NC_000003.10:g.53066128A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9833T>G
ENST00000607283.5:c.465-13818T>G
ENST00000607495.5:c.447+20616T>G