Canonical Allele Identifier: CA358944865

Gene: KLKB1

Linked Data

• dbSNP Id: rs1268309676
• gnomAD v2: 4-187157967-A-G
• gnomAD v4: 4-186236813-A-G
• MyVariant Identifiers: chr4:g.187157967A>G (hg19) ; chr4:g.186236813A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186236813A>G , CM000666.2:g.186236813A>G	GRCh38
NC_000004.11:g.187157967A>G , CM000666.1:g.187157967A>G	GRCh37
NC_000004.10:g.187394961A>G	NCBI36
NG_012095.2:g.32835A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264690.11:c.361A>G MANE Select	ENSP00000264690.6:p.Met121Val
ENST00000264690.10:c.361A>G	ENSP00000264690.6:p.Met121Val
ENST00000428196.5:c.361A>G	ENSP00000412366.1:p.Met121Val
ENST00000446598.6:c.247A>G	ENSP00000415563.2:p.Met83Val
ENST00000511406.5:n.391A>G
ENST00000511608.5:c.504A>G
ENST00000513864.2:c.247A>G	ENSP00000424469.2:p.Met83Val
NM_000892.3:c.361A>G	NP_000883.2:p.Met121Val
XM_011531930.1:c.361A>G	XP_011530232.1:p.Met121Val
XM_011531931.1:c.361A>G	XP_011530233.1:p.Met121Val
XM_011531932.1:c.247A>G	XP_011530234.1:p.Met83Val
XM_011531933.1:c.247A>G	XP_011530235.1:p.Met83Val
XM_011531934.1:c.-277A>G	XP_011530236.1:n.-277A>G
NM_000892.4:c.361A>G	NP_000883.2:p.Met121Val
NM_001318394.1:c.247A>G	NP_001305323.1:p.Met83Val
NM_001318396.1:c.-277A>G	NP_001305325.1:n.-277A>G
XM_011531930.2:c.361A>G	XP_011530232.1:p.Met121Val
XM_017008181.1:c.361A>G	XP_016863670.1:p.Met121Val
XM_017008182.1:c.361A>G	XP_016863671.1:p.Met121Val
XM_017008183.1:c.361A>G	XP_016863672.1:p.Met121Val
NM_000892.5:c.361A>G MANE Select	NP_000883.2:p.Met121Val
NM_001318394.2:c.247A>G	NP_001305323.1:p.Met83Val
NM_001318396.2:c.-277A>G	NP_001305325.1:n.-277A>G