Canonical Allele Identifier: CA121829
Gene: KLKB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12034
ClinVar RCV Id: RCV000012814
dbSNP Id: rs121964950
ExAC: 4:187173231 G / A
gnomAD v2: 4-187173231-G-A
gnomAD v4: 4-186252077-G-A
MyVariant Identifiers: chr4:g.187173231G>A (hg19) chr4:g.186252077G>A (hg38)
PubMed: PMID:14652634
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186252077G>A , CM000666.2:g.186252077G>A GRCh38
NC_000004.11:g.187173231G>A , CM000666.1:g.187173231G>A GRCh37
NC_000004.10:g.187410225G>A NCBI36
NG_012095.2:g.48099G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264690.11:c.1205G>A MANE Select ENSP00000264690.6:p.Trp402Ter
ENST00000264690.10:c.1205G>A ENSP00000264690.6:p.Trp402Ter
ENST00000467271.1:n.634G>A
ENST00000511406.5:n.1266G>A
ENST00000511608.5:c.1348G>A
ENST00000513864.2:c.1091G>A ENSP00000424469.2:p.Trp364Ter
NM_000892.3:c.1205G>A NP_000883.2:p.Trp402Ter
XM_011531930.1:c.1238G>A XP_011530232.1:p.Trp413Ter
XM_011531931.1:c.1238G>A XP_011530233.1:p.Trp413Ter
XM_011531932.1:c.1124G>A XP_011530234.1:p.Trp375Ter
XM_011531933.1:c.1124G>A XP_011530235.1:p.Trp375Ter
XM_011531934.1:c.599G>A XP_011530236.1:p.Trp200Ter
NM_000892.4:c.1205G>A NP_000883.2:p.Trp402Ter
NM_001318394.1:c.1091G>A NP_001305323.1:p.Trp364Ter
NM_001318396.1:c.599G>A NP_001305325.1:p.Trp200Ter
XM_011531930.2:c.1238G>A XP_011530232.1:p.Trp413Ter
XM_017008181.1:c.1238G>A XP_016863670.1:p.Trp413Ter
XM_017008182.1:c.1238G>A XP_016863671.1:p.Trp413Ter
XM_017008183.1:c.1205G>A XP_016863672.1:p.Trp402Ter
XM_017008184.1:c.599G>A XP_016863673.1:p.Trp200Ter
NM_000892.5:c.1205G>A MANE Select NP_000883.2:p.Trp402Ter
NM_001318394.2:c.1091G>A NP_001305323.1:p.Trp364Ter
NM_001318396.2:c.599G>A NP_001305325.1:p.Trp200Ter
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