Canonical Allele Identifier: CA407040813

Gene: KLK4

Linked Data

• dbSNP Id: rs1452099966
• gnomAD v2: 19-51411713-C-G
• gnomAD v4: 19-50908457-C-G
• MyVariant Identifiers: chr19:g.51411713C>G (hg19) ; chr19:g.50908457C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50908457C>G , CM000681.2:g.50908457C>G	GRCh38
NC_000019.9:g.51411713C>G , CM000681.1:g.51411713C>G	GRCh37
NC_000019.8:g.56103525C>G	NCBI36
NG_012154.2:g.7282G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324041.6:c.514G>C MANE Select	ENSP00000326159.1:p.Val172Leu
ENST00000324041.5:c.514G>C	ENSP00000326159.1:p.Val172Leu
ENST00000431178.2:c.328+122G>C	ENSP00000399448.2:n.328+122G>C
ENST00000593885.1:c.*9G>C	ENSP00000469769.1:n.*9G>C
ENST00000596876.1:n.516G>C
ENST00000598305.5:c.*9G>C	ENSP00000469963.1:n.*9G>C
ENST00000599865.5:n.450G>C
ENST00000602148.1:c.526G>C	ENSP00000472091.1:n.526G>C
NM_001302961.1:c.229G>C	NP_001289890.1:p.Val77Leu
NM_004917.4:c.514G>C	NP_004908.4:p.Val172Leu
NR_126566.1:n.503G>C
XM_005259441.3:c.229G>C	XP_005259498.2:p.Val77Leu
XM_011527545.1:c.*9G>C	XP_011525847.1:n.*9G>C
XM_011527546.1:c.475+122G>C	XP_011525848.1:n.475+122G>C
XM_011527547.1:c.367G>C	XP_011525849.1:p.Val123Leu
XM_005259441.4:c.229G>C	XP_005259498.2:p.Val77Leu
XM_011527545.3:c.*9G>C	XP_011525847.1:n.*9G>C
XM_011527546.2:c.475+122G>C	XP_011525848.1:n.475+122G>C
NM_001302961.2:c.229G>C	NP_001289890.1:p.Val77Leu
NR_126566.2:n.503G>C
NM_004917.5:c.514G>C MANE Select	NP_004908.4:p.Val172Leu