Canonical Allele Identifier: CA2691076820
Gene: FKTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105636312A>T , CM000671.2:g.105636312A>T GRCh38
NC_000009.11:g.108398593A>T , CM000671.1:g.108398593A>T GRCh37
NC_000009.10:g.107438414A>T NCBI36
NG_008754.1:g.83183A>T , LRG_434:g.83183A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000357998.10:c.*1048A>T MANE Select ENSP00000350687.6:n.*1048A>T
ENST00000642177.1:c.*486-361A>T ENSP00000495864.1:n.*486-361A>T
ENST00000642537.1:c.*1539-361A>T ENSP00000495945.1:n.*1539-361A>T
ENST00000642952.1:c.1610+1164A>T ENSP00000493886.1:n.1610+1164A>T
ENST00000644273.1:c.553+1164A>T
ENST00000645933.1:c.*1584-361A>T ENSP00000495852.1:n.*1584-361A>T
ENST00000674563.1:c.*1415A>T ENSP00000502153.1:n.*1415A>T
ENST00000674633.1:c.1270+1164A>T ENSP00000502164.1:n.1270+1164A>T
ENST00000675695.1:c.*1415A>T ENSP00000502460.1:n.*1415A>T
ENST00000675736.1:c.*2214A>T ENSP00000502809.1:n.*2214A>T
ENST00000676011.1:n.3798A>T
ENST00000676310.1:c.1270+1164A>T ENSP00000501585.1:n.1270+1164A>T
ENST00000223528.6:c.*1048A>T ENSP00000223528.2:n.*1048A>T
ENST00000357998.9:c.1270+1164A>T ENSP00000350687.5:n.1270+1164A>T
ENST00000448551.6:c.1270+1164A>T ENSP00000399140.2:n.1270+1164A>T
ENST00000457847.1:c.361-361A>T
ENST00000602526.1:c.*2472A>T ENSP00000473347.1:n.*2472A>T
NM_001079802.1:c.*1048A>T , LRG_434t1:c.*1048A>T NP_001073270.1:n.*1048A>T
NM_001198963.1:c.1270+1164A>T NP_001185892.1:n.1270+1164A>T
NM_006731.2:c.*1048A>T , LRG_434t2:c.*1048A>T NP_006722.2:n.*1048A>T
XM_006717014.2:c.*1226A>T XP_006717077.1:n.*1226A>T
NM_001351496.1:c.*1048A>T NP_001338425.1:n.*1048A>T
NM_001351497.1:c.*1048A>T NP_001338426.1:n.*1048A>T
NM_001351498.1:c.*1226A>T NP_001338427.1:n.*1226A>T
NM_001351499.1:c.*1048A>T NP_001338428.1:n.*1048A>T
NM_001351500.1:c.*1048A>T NP_001338429.1:n.*1048A>T
NM_001351501.1:c.*1048A>T NP_001338430.1:n.*1048A>T
NM_001351502.1:c.*1048A>T NP_001338431.1:n.*1048A>T
NR_147213.1:n.2558A>T
NR_147214.1:n.2730A>T
XM_011518391.2:c.*1226A>T XP_011516693.1:n.*1226A>T
XM_017014464.1:c.1270+1164A>T XP_016869953.1:n.1270+1164A>T
XM_017014465.1:c.1270+1164A>T XP_016869954.1:n.1270+1164A>T
XM_017014467.1:c.*1048A>T XP_016869956.1:n.*1048A>T
XM_017014468.1:c.*1048A>T XP_016869957.1:n.*1048A>T
XM_017014469.1:c.1270+1164A>T XP_016869958.1:n.1270+1164A>T
XM_017014470.1:c.1270+1164A>T XP_016869959.1:n.1270+1164A>T
XR_001746242.2:n.1837+1164A>T
XR_001746244.2:n.1665+1164A>T
XR_001746245.1:n.2820A>T
XR_001746248.1:n.3913A>T
XR_002956770.1:n.2676A>T
NM_001079802.2:c.*1048A>T MANE Select NP_001073270.1:n.*1048A>T
NM_001198963.2:c.1270+1164A>T NP_001185892.1:n.1270+1164A>T
NM_001351496.2:c.*1048A>T NP_001338425.1:n.*1048A>T
NM_001351497.2:c.*1048A>T NP_001338426.1:n.*1048A>T
NM_001351498.2:c.*1226A>T NP_001338427.1:n.*1226A>T
NM_001351499.2:c.*1048A>T NP_001338428.1:n.*1048A>T
NM_001351500.2:c.*1048A>T NP_001338429.1:n.*1048A>T
NM_001351501.2:c.*1048A>T NP_001338430.1:n.*1048A>T
NM_001351502.2:c.*1048A>T NP_001338431.1:n.*1048A>T
NR_147213.2:n.2557A>T
NR_147214.2:n.2729A>T