Canonical Allele Identifier: CA374378170
Gene: FKTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105635127G>T , CM000671.2:g.105635127G>T GRCh38
NC_000009.11:g.108397408G>T , CM000671.1:g.108397408G>T GRCh37
NC_000009.10:g.107437229G>T NCBI36
NG_008754.1:g.81998G>T , LRG_434:g.81998G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357998.10:c.1249G>T MANE Select ENSP00000350687.6:p.Glu417Ter
ENST00000602661.6:c.*857G>T ENSP00000473540.2:n.*857G>T
ENST00000642177.1:c.*464G>T ENSP00000495864.1:n.*464G>T
ENST00000642537.1:c.*1517G>T ENSP00000495945.1:n.*1517G>T
ENST00000642952.1:c.1589G>T ENSP00000493886.1:n.1589G>T
ENST00000644273.1:c.532G>T
ENST00000645933.1:c.*1562G>T ENSP00000495852.1:n.*1562G>T
ENST00000674563.1:c.*230G>T ENSP00000502153.1:n.*230G>T
ENST00000674633.1:c.1249G>T ENSP00000502164.1:p.Glu417Ter
ENST00000675695.1:c.*230G>T ENSP00000502460.1:n.*230G>T
ENST00000675736.1:c.*1029G>T ENSP00000502809.1:n.*1029G>T
ENST00000676011.1:n.2613G>T
ENST00000676310.1:c.1249G>T ENSP00000501585.1:p.Glu417Ter
ENST00000223528.6:c.1249G>T ENSP00000223528.2:p.Glu417Ter
ENST00000357998.9:c.1249G>T ENSP00000350687.5:p.Glu417Ter
ENST00000448551.6:c.1249G>T ENSP00000399140.2:p.Glu417Ter
ENST00000457847.1:c.339G>T
ENST00000602526.1:c.*1287G>T ENSP00000473347.1:n.*1287G>T
ENST00000602661.5:c.1249G>T ENSP00000473540.1:p.Glu417Ter
NM_001079802.1:c.1249G>T , LRG_434t1:c.1249G>T NP_001073270.1:p.Glu417Ter
NM_001198963.1:c.1249G>T NP_001185892.1:p.Glu417Ter
NM_006731.2:c.1249G>T , LRG_434t2:c.1249G>T NP_006722.2:p.Glu417Ter
XM_006717014.2:c.*41G>T XP_006717077.1:n.*41G>T
XM_011518378.1:c.*33G>T XP_011516680.1:n.*33G>T
XM_011518380.1:c.*188G>T XP_011516682.1:n.*188G>T
XM_011518386.1:c.*41G>T XP_011516688.1:n.*41G>T
XM_011518391.1:c.*41G>T XP_011516693.1:n.*41G>T
NM_001351496.1:c.1249G>T NP_001338425.1:p.Glu417Ter
NM_001351497.1:c.1180G>T NP_001338426.1:p.Glu394Ter
NM_001351498.1:c.*41G>T NP_001338427.1:n.*41G>T
NM_001351499.1:c.853G>T NP_001338428.1:p.Glu285Ter
NM_001351500.1:c.853G>T NP_001338429.1:p.Glu285Ter
NM_001351501.1:c.853G>T NP_001338430.1:p.Glu285Ter
NM_001351502.1:c.853G>T NP_001338431.1:p.Glu285Ter
NR_147213.1:n.1373G>T
NR_147214.1:n.1545G>T
XM_011518378.2:c.*33G>T XP_011516680.1:n.*33G>T
XM_011518391.2:c.*41G>T XP_011516693.1:n.*41G>T
XM_017014464.1:c.1249G>T XP_016869953.1:p.Glu417Ter
XM_017014465.1:c.1249G>T XP_016869954.1:p.Glu417Ter
XM_017014467.1:c.1249G>T XP_016869956.1:p.Glu417Ter
XM_017014468.1:c.1249G>T XP_016869957.1:p.Glu417Ter
XM_017014469.1:c.1249G>T XP_016869958.1:p.Glu417Ter
XM_017014470.1:c.1249G>T XP_016869959.1:p.Glu417Ter
XR_001746242.2:n.1816G>T
XR_001746244.2:n.1644G>T
XR_001746245.1:n.1635G>T
XR_001746248.1:n.2728G>T
XR_002956770.1:n.1491G>T
NM_001079802.2:c.1249G>T MANE Select NP_001073270.1:p.Glu417Ter
NM_001198963.2:c.1249G>T NP_001185892.1:p.Glu417Ter
NM_001351496.2:c.1249G>T NP_001338425.1:p.Glu417Ter
NM_001351497.2:c.1180G>T NP_001338426.1:p.Glu394Ter
NM_001351498.2:c.*41G>T NP_001338427.1:n.*41G>T
NM_001351499.2:c.853G>T NP_001338428.1:p.Glu285Ter
NM_001351500.2:c.853G>T NP_001338429.1:p.Glu285Ter
NM_001351501.2:c.853G>T NP_001338430.1:p.Glu285Ter
NM_001351502.2:c.853G>T NP_001338431.1:p.Glu285Ter
NR_147213.2:n.1372G>T
NR_147214.2:n.1544G>T