Canonical Allele Identifier: CA6147717
Gene: CHKA HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68066469G>T , CM000673.2:g.68066469G>T GRCh38
NC_000011.9:g.67833936G>T , CM000673.1:g.67833936G>T GRCh37
NC_000011.8:g.67590512G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265689.9:c.976C>A MANE Select ENSP00000265689.4:p.Leu326Met
ENST00000265689.8:c.976C>A ENSP00000265689.4:p.Leu326Met
ENST00000356135.9:c.922C>A ENSP00000348454.4:p.Leu308Met
NM_001277.2:c.976C>A NP_001268.2:p.Leu326Met
NM_212469.1:c.922C>A NP_997634.1:p.Leu308Met
XR_428904.2:n.1187C>A
XR_428905.1:n.2546C>A
XR_949772.1:n.1133C>A
XR_949773.1:n.1073C>A
XR_949774.1:n.1904C>A
XR_949775.1:n.2432C>A
XR_949776.1:n.362C>A
XR_949777.1:n.1285C>A
XM_017017147.1:c.862C>A XP_016872636.1:p.Leu288Met
XM_017017148.2:c.448C>A XP_016872637.1:p.Leu150Met
XR_428904.3:n.1188C>A
XR_428905.3:n.6760C>A
XR_949772.2:n.1116C>A
XR_949773.2:n.1074C>A
NM_001277.3:c.976C>A MANE Select NP_001268.2:p.Leu326Met
NM_001376219.1:c.1006C>A NP_001363148.1:p.Leu336Met
NM_001376220.1:c.862C>A NP_001363149.1:p.Leu288Met
NM_001376221.1:c.610C>A NP_001363150.1:p.Leu204Met
NM_001376222.1:c.556C>A NP_001363151.1:p.Leu186Met
NM_212469.2:c.922C>A NP_997634.1:p.Leu308Met
NR_164782.1:n.1187C>A