Canonical Allele Identifier: CA14722950

Gene: KLK4

Linked Data

• ClinVar Variation Id: 1279596
• ClinVar RCV Id: RCV001693169
• dbSNP Id: rs2979451
• gnomAD v2: 19-51411388-T-C
• gnomAD v3: 19-50908132-T-C
• gnomAD v4: 19-50908132-T-C
• MyVariant Identifiers: chr19:g.51411388T>C (hg19) ; chr19:g.50908132T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50908132T>C , CM000681.2:g.50908132T>C	GRCh38
NC_000019.9:g.51411388T>C , CM000681.1:g.51411388T>C	GRCh37
NC_000019.8:g.56103200T>C	NCBI36
NG_012154.2:g.7607A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324041.6:c.612+227A>G MANE Select	ENSP00000326159.1:n.612+227A>G
ENST00000324041.5:c.612+227A>G	ENSP00000326159.1:n.612+227A>G
ENST00000431178.2:c.328+447A>G	ENSP00000399448.2:n.328+447A>G
ENST00000593885.1:c.*107+227A>G	ENSP00000469769.1:n.*107+227A>G
ENST00000596876.1:n.841A>G
ENST00000598305.5:c.*107+227A>G	ENSP00000469963.1:n.*107+227A>G
ENST00000599865.5:n.548+227A>G
ENST00000602148.1:c.624+227A>G	ENSP00000472091.1:n.624+227A>G
NM_001302961.1:c.327+227A>G	NP_001289890.1:n.327+227A>G
NM_004917.4:c.612+227A>G	NP_004908.4:n.612+227A>G
NR_126566.1:n.601+227A>G
XM_005259441.3:c.327+227A>G	XP_005259498.2:n.327+227A>G
XM_011527546.1:c.475+447A>G	XP_011525848.1:n.475+447A>G
XM_011527547.1:c.465+227A>G	XP_011525849.1:n.465+227A>G
XM_005259441.4:c.327+227A>G	XP_005259498.2:n.327+227A>G
XM_011527546.2:c.475+447A>G	XP_011525848.1:n.475+447A>G
NM_001302961.2:c.327+227A>G	NP_001289890.1:n.327+227A>G
NR_126566.2:n.601+227A>G
NM_004917.5:c.612+227A>G MANE Select	NP_004908.4:n.612+227A>G