Canonical Allele Identifier: CA121835

Gene: KLKB1

Linked Data

• ClinVar Variation Id: 12037
• ClinVar RCV Id: RCV000012817 ; RCV001528584 ; RCV001723561
• dbSNP Id: rs3733402
• ExAC: 4:187158034 G / A
• gnomAD v2: 4-187158034-G-A
• gnomAD v3: 4-186236880-G-A
• gnomAD v4: 4-186236880-G-A
• MyVariant Identifiers: chr4:g.187158034G>A (hg19) ; chr4:g.186236880G>A (hg38)
• PubMed: PMID:17598838

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