Canonical Allele Identifier: CA112133948

Gene: KLKB1

Linked Data

• dbSNP Id: rs367568756
• gnomAD v2: 4-187178440-A-G
• MyVariant Identifiers: chr4:g.187178440A>G (hg19) ; chr4:g.186257286A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186257286A>G , CM000666.2:g.186257286A>G	GRCh38
NC_000004.11:g.187178440A>G , CM000666.1:g.187178440A>G	GRCh37
NC_000004.10:g.187415434A>G	NCBI36
NG_012095.2:g.53308A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264690.11:c.1646A>G MANE Select	ENSP00000264690.6:p.Gln549Arg
ENST00000264690.10:c.1646A>G	ENSP00000264690.6:p.Gln549Arg
ENST00000511406.5:n.1707A>G
ENST00000511608.5:c.1789A>G
ENST00000513864.2:c.1472-735A>G	ENSP00000424469.2:n.1472-735A>G
NM_000892.3:c.1646A>G	NP_000883.2:p.Gln549Arg
XM_011531930.1:c.1679A>G	XP_011530232.1:p.Gln560Arg
XM_011531931.1:c.1679A>G	XP_011530233.1:p.Gln560Arg
XM_011531932.1:c.1565A>G	XP_011530234.1:p.Gln522Arg
XM_011531933.1:c.1565A>G	XP_011530235.1:p.Gln522Arg
XM_011531934.1:c.1040A>G	XP_011530236.1:p.Gln347Arg
NM_000892.4:c.1646A>G	NP_000883.2:p.Gln549Arg
NM_001318394.1:c.1472-735A>G	NP_001305323.1:n.1472-735A>G
NM_001318396.1:c.1040A>G	NP_001305325.1:p.Gln347Arg
XM_011531930.2:c.1679A>G	XP_011530232.1:p.Gln560Arg
XM_017008181.1:c.1679A>G	XP_016863670.1:p.Gln560Arg
XM_017008182.1:c.1619-735A>G	XP_016863671.1:n.1619-735A>G
XM_017008183.1:c.1586-735A>G	XP_016863672.1:n.1586-735A>G
XM_017008184.1:c.1040A>G	XP_016863673.1:p.Gln347Arg
NM_000892.5:c.1646A>G MANE Select	NP_000883.2:p.Gln549Arg
NM_001318394.2:c.1472-735A>G	NP_001305323.1:n.1472-735A>G
NM_001318396.2:c.1040A>G	NP_001305325.1:p.Gln347Arg