Canonical Allele Identifier: CA166218835
Gene: KCP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128880430C>T , CM000669.2:g.128880430C>T GRCh38
NC_000007.13:g.128520484C>T , CM000669.1:g.128520484C>T GRCh37
NC_000007.12:g.128307720C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000610776.5:c.3715G>A MANE Select ENSP00000479679.1:p.Val1239Met
ENST00000679229.1:n.360+189G>A
ENST00000492679.5:n.404G>A
ENST00000610776.4:c.3715G>A ENSP00000479679.1:p.Val1239Met
ENST00000611280.4:c.3535G>A ENSP00000480867.1:p.Val1179Met
ENST00000613019.4:c.3535G>A ENSP00000477644.1:p.Val1179Met
ENST00000620378.1:c.3343G>A ENSP00000484293.1:p.Val1115Met
NM_001135914.1:c.3340G>A NP_001129386.1:p.Val1114Met
XM_011516171.1:c.3778G>A XP_011514473.1:p.Val1260Met
XM_011516172.1:c.3715G>A XP_011514474.1:p.Val1239Met
XM_011516173.1:c.3778G>A XP_011514475.1:p.Val1260Met
XM_011516174.1:c.3778G>A XP_011514476.1:p.Val1260Met
XM_011516175.1:c.3778G>A XP_011514477.1:p.Val1260Met
XM_011516176.1:c.3778G>A XP_011514478.1:p.Val1260Met
NM_001366122.1:c.3715G>A MANE Select NP_001353051.1:p.Val1239Met
XM_017012184.1:c.3730G>A XP_016867673.1:p.Val1244Met
XM_017012186.1:c.3730G>A XP_016867675.1:p.Val1244Met
XM_017012187.1:c.3730G>A XP_016867676.1:p.Val1244Met
XM_017012188.1:c.3730G>A XP_016867677.1:p.Val1244Met
XM_017012189.1:c.3730G>A XP_016867678.1:p.Val1244Met
XM_017012190.1:c.3730G>A XP_016867679.1:p.Val1244Met
XM_017012191.1:c.2872G>A XP_016867680.1:p.Val958Met
XM_017012192.2:c.2872G>A XP_016867681.1:p.Val958Met
XM_017012194.1:c.*462G>A XP_016867683.1:n.*462G>A