Canonical Allele Identifier: CA3163457

Gene: KLKB1

Linked Data

• dbSNP Id: rs757660226
• ExAC: 4:187178516 T / C
• gnomAD v2: 4-187178516-T-C
• gnomAD v4: 4-186257362-T-C
• MyVariant Identifiers: chr4:g.187178516T>C (hg19) ; chr4:g.186257362T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186257362T>C , CM000666.2:g.186257362T>C	GRCh38
NC_000004.11:g.187178516T>C , CM000666.1:g.187178516T>C	GRCh37
NC_000004.10:g.187415510T>C	NCBI36
NG_012095.2:g.53384T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264690.11:c.1722T>C MANE Select	ENSP00000264690.6:p.Cys574=
ENST00000264690.10:c.1722T>C	ENSP00000264690.6:p.Cys574=
ENST00000511406.5:n.1783T>C
ENST00000511608.5:c.1865T>C
ENST00000513864.2:c.1472-659T>C	ENSP00000424469.2:n.1472-659T>C
NM_000892.3:c.1722T>C	NP_000883.2:p.Cys574=
XM_011531930.1:c.1755T>C	XP_011530232.1:p.Cys585=
XM_011531931.1:c.1755T>C	XP_011530233.1:p.Cys585=
XM_011531932.1:c.1641T>C	XP_011530234.1:p.Cys547=
XM_011531933.1:c.1641T>C	XP_011530235.1:p.Cys547=
XM_011531934.1:c.1116T>C	XP_011530236.1:p.Cys372=
NM_000892.4:c.1722T>C	NP_000883.2:p.Cys574=
NM_001318394.1:c.1472-659T>C	NP_001305323.1:n.1472-659T>C
NM_001318396.1:c.1116T>C	NP_001305325.1:p.Cys372=
XM_011531930.2:c.1755T>C	XP_011530232.1:p.Cys585=
XM_017008181.1:c.1755T>C	XP_016863670.1:p.Cys585=
XM_017008182.1:c.1619-659T>C	XP_016863671.1:n.1619-659T>C
XM_017008183.1:c.1586-659T>C	XP_016863672.1:n.1586-659T>C
XM_017008184.1:c.1116T>C	XP_016863673.1:p.Cys372=
NM_000892.5:c.1722T>C MANE Select	NP_000883.2:p.Cys574=
NM_001318394.2:c.1472-659T>C	NP_001305323.1:n.1472-659T>C
NM_001318396.2:c.1116T>C	NP_001305325.1:p.Cys372=