Canonical Allele Identifier: CA121835
Gene: KLKB1 HGNC NCBI
COSMIC:
COSM149774 (not active)
COSM3760537 (not active)
MyVariant.info:
GRCh38 chr4:g.186236880G>A
GRCh37 chr4:g.187158034G>A
Revel Score:
ENST00000428196 0.218
ENST00000264690 (MANE Select) 0.218
ENST00000446598 0.218
ENST00000414291 0.218
ENST00000513864 0.218
ENST00000418715 0.218
ENST00000511608 0.229
gnomAD v2:
4:187158034 G / A
gnomAD v3:
4:186236880 G / A
gnomAD v4:
chr4-186236880-G-A
Joint Max Group AF 0.73356392 (AFR)
Genomes Max Group AF 0.73134629 (AFR)
Exomes Max Group AF 0.73156285 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186236880G>A , CM000666.2:g.186236880G>A GRCh38
NC_000004.11:g.187158034G>A , CM000666.1:g.187158034G>A GRCh37
NC_000004.10:g.187395028G>A NCBI36
NG_012095.2:g.32902G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264690.11:c.428G>A MANE Select ENSP00000264690.6:p.Ser143Asn
ENST00000264690.10:c.428G>A ENSP00000264690.6:p.Ser143Asn
ENST00000428196.5:c.428G>A ENSP00000412366.1:p.Ser143Asn
ENST00000446598.6:c.314G>A ENSP00000415563.2:p.Ser105Asn
ENST00000511406.5:n.458G>A
ENST00000511608.5:c.571G>A
ENST00000513864.2:c.314G>A ENSP00000424469.2:p.Ser105Asn
NM_000892.3:c.428G>A NP_000883.2:p.Ser143Asn
XM_011531930.1:c.428G>A XP_011530232.1:p.Ser143Asn
XM_011531931.1:c.428G>A XP_011530233.1:p.Ser143Asn
XM_011531932.1:c.314G>A XP_011530234.1:p.Ser105Asn
XM_011531933.1:c.314G>A XP_011530235.1:p.Ser105Asn
XM_011531934.1:c.-210G>A XP_011530236.1:n.-210G>A
NM_000892.4:c.428G>A NP_000883.2:p.Ser143Asn
NM_001318394.1:c.314G>A NP_001305323.1:p.Ser105Asn
NM_001318396.1:c.-210G>A NP_001305325.1:n.-210G>A
XM_011531930.2:c.428G>A XP_011530232.1:p.Ser143Asn
XM_017008181.1:c.428G>A XP_016863670.1:p.Ser143Asn
XM_017008182.1:c.428G>A XP_016863671.1:p.Ser143Asn
XM_017008183.1:c.428G>A XP_016863672.1:p.Ser143Asn
NM_000892.5:c.428G>A MANE Select NP_000883.2:p.Ser143Asn
NM_001318394.2:c.314G>A NP_001305323.1:p.Ser105Asn
NM_001318396.2:c.-210G>A NP_001305325.1:n.-210G>A
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