Canonical Allele Identifier: CA442643866
Gene: KLKB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.187178450T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186257296T>C , CM000666.2:g.186257296T>C GRCh38
NC_000004.11:g.187178450T>C , CM000666.1:g.187178450T>C GRCh37
NC_000004.10:g.187415444T>C NCBI36
NG_012095.2:g.53318T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264690.11:c.1656T>C MANE Select ENSP00000264690.6:p.Tyr552=
ENST00000264690.10:c.1656T>C ENSP00000264690.6:p.Tyr552=
ENST00000511406.5:n.1717T>C
ENST00000511608.5:c.1799T>C
ENST00000513864.2:c.1472-725T>C ENSP00000424469.2:n.1472-725T>C
NM_000892.3:c.1656T>C NP_000883.2:p.Tyr552=
XM_011531930.1:c.1689T>C XP_011530232.1:p.Tyr563=
XM_011531931.1:c.1689T>C XP_011530233.1:p.Tyr563=
XM_011531932.1:c.1575T>C XP_011530234.1:p.Tyr525=
XM_011531933.1:c.1575T>C XP_011530235.1:p.Tyr525=
XM_011531934.1:c.1050T>C XP_011530236.1:p.Tyr350=
NM_000892.4:c.1656T>C NP_000883.2:p.Tyr552=
NM_001318394.1:c.1472-725T>C NP_001305323.1:n.1472-725T>C
NM_001318396.1:c.1050T>C NP_001305325.1:p.Tyr350=
XM_011531930.2:c.1689T>C XP_011530232.1:p.Tyr563=
XM_017008181.1:c.1689T>C XP_016863670.1:p.Tyr563=
XM_017008182.1:c.1619-725T>C XP_016863671.1:n.1619-725T>C
XM_017008183.1:c.1586-725T>C XP_016863672.1:n.1586-725T>C
XM_017008184.1:c.1050T>C XP_016863673.1:p.Tyr350=
NM_000892.5:c.1656T>C MANE Select NP_000883.2:p.Tyr552=
NM_001318394.2:c.1472-725T>C NP_001305323.1:n.1472-725T>C
NM_001318396.2:c.1050T>C NP_001305325.1:p.Tyr350=