Canonical Allele Identifier: CA104660185

Gene: PRSS12

Linked Data

• ClinVar Variation Id: 436425
• ClinVar RCV Id: RCV000500179
• dbSNP Id: rs985299480
• gnomAD v2: 4-119204159-C-T
• gnomAD v3: 4-118283004-C-T
• gnomAD v4: 4-118283004-C-T
• COSMIC: COSM6301739
• MyVariant Identifiers: chr4:g.119204159C>T (hg19) ; chr4:g.118283004C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118283004C>T , CM000666.2:g.118283004C>T	GRCh38
NC_000004.11:g.119204159C>T , CM000666.1:g.119204159C>T	GRCh37
NC_000004.10:g.119423607C>T	NCBI36
NG_023350.1:g.74764G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296498.3:c.2147G>A MANE Select	ENSP00000296498.3:p.Arg716Gln
ENST00000510903.1:n.230G>A
NM_003619.3:c.2147G>A	NP_003610.2:p.Arg716Gln
NM_003619.4:c.2147G>A MANE Select	NP_003610.2:p.Arg716Gln