Canonical Allele Identifier: CA358955101

Gene: KLKB1

Linked Data

• gnomAD v4: 4-186257285-C-A
• MyVariant Identifiers: chr4:g.187178439C>A (hg19) ; chr4:g.186257285C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186257285C>A , CM000666.2:g.186257285C>A	GRCh38
NC_000004.11:g.187178439C>A , CM000666.1:g.187178439C>A	GRCh37
NC_000004.10:g.187415433C>A	NCBI36
NG_012095.2:g.53307C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264690.11:c.1645C>A MANE Select	ENSP00000264690.6:p.Gln549Lys
ENST00000264690.10:c.1645C>A	ENSP00000264690.6:p.Gln549Lys
ENST00000511406.5:n.1706C>A
ENST00000511608.5:c.1788C>A
ENST00000513864.2:c.1472-736C>A	ENSP00000424469.2:n.1472-736C>A
NM_000892.3:c.1645C>A	NP_000883.2:p.Gln549Lys
XM_011531930.1:c.1678C>A	XP_011530232.1:p.Gln560Lys
XM_011531931.1:c.1678C>A	XP_011530233.1:p.Gln560Lys
XM_011531932.1:c.1564C>A	XP_011530234.1:p.Gln522Lys
XM_011531933.1:c.1564C>A	XP_011530235.1:p.Gln522Lys
XM_011531934.1:c.1039C>A	XP_011530236.1:p.Gln347Lys
NM_000892.4:c.1645C>A	NP_000883.2:p.Gln549Lys
NM_001318394.1:c.1472-736C>A	NP_001305323.1:n.1472-736C>A
NM_001318396.1:c.1039C>A	NP_001305325.1:p.Gln347Lys
XM_011531930.2:c.1678C>A	XP_011530232.1:p.Gln560Lys
XM_017008181.1:c.1678C>A	XP_016863670.1:p.Gln560Lys
XM_017008182.1:c.1619-736C>A	XP_016863671.1:n.1619-736C>A
XM_017008183.1:c.1586-736C>A	XP_016863672.1:n.1586-736C>A
XM_017008184.1:c.1039C>A	XP_016863673.1:p.Gln347Lys
NM_000892.5:c.1645C>A MANE Select	NP_000883.2:p.Gln549Lys
NM_001318394.2:c.1472-736C>A	NP_001305323.1:n.1472-736C>A
NM_001318396.2:c.1039C>A	NP_001305325.1:p.Gln347Lys