Canonical Allele Identifier: CA374378008

Gene: FKTN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105635053A>T , CM000671.2:g.105635053A>T	GRCh38
NC_000009.11:g.108397334A>T , CM000671.1:g.108397334A>T	GRCh37
NC_000009.10:g.107437155A>T	NCBI36
NG_008754.1:g.81924A>T , LRG_434:g.81924A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001079802.2:c.1175A>T MANE Select	NP_001073270.1:p.Tyr392Phe
ENST00000357998.10:c.1175A>T MANE Select	ENSP00000350687.6:p.Tyr392Phe
NM_001079802.1:c.1175A>T , LRG_434t1:c.1175A>T	NP_001073270.1:p.Tyr392Phe
NM_001198963.1:c.1175A>T	NP_001185892.1:p.Tyr392Phe
NM_001198963.2:c.1175A>T	NP_001185892.1:p.Tyr392Phe
NM_001351496.1:c.1175A>T	NP_001338425.1:p.Tyr392Phe
NM_001351496.2:c.1175A>T	NP_001338425.1:p.Tyr392Phe
NM_001351497.1:c.1106A>T	NP_001338426.1:p.Tyr369Phe
NM_001351497.2:c.1106A>T	NP_001338426.1:p.Tyr369Phe
NM_001351498.1:c.1206A>T	NP_001338427.1:p.Ile402=
NM_001351498.2:c.1206A>T	NP_001338427.1:p.Ile402=
NM_001351499.1:c.779A>T	NP_001338428.1:p.Tyr260Phe
NM_001351499.2:c.779A>T	NP_001338428.1:p.Tyr260Phe
NM_001351500.1:c.779A>T	NP_001338429.1:p.Tyr260Phe
NM_001351500.2:c.779A>T	NP_001338429.1:p.Tyr260Phe
NM_001351501.1:c.779A>T	NP_001338430.1:p.Tyr260Phe
NM_001351501.2:c.779A>T	NP_001338430.1:p.Tyr260Phe
NM_001351502.1:c.779A>T	NP_001338431.1:p.Tyr260Phe
NM_001351502.2:c.779A>T	NP_001338431.1:p.Tyr260Phe
NM_006731.2:c.1175A>T , LRG_434t2:c.1175A>T	NP_006722.2:p.Tyr392Phe
NR_147213.1:n.1299A>T
NR_147213.2:n.1298A>T
NR_147214.1:n.1471A>T
NR_147214.2:n.1470A>T
ENST00000223528.6:c.1175A>T	ENSP00000223528.2:p.Tyr392Phe
ENST00000357998.9:c.1175A>T	ENSP00000350687.5:p.Tyr392Phe
ENST00000448551.6:c.1175A>T	ENSP00000399140.2:p.Tyr392Phe
ENST00000457847.1:c.265A>T
ENST00000602526.1:c.*1213A>T	ENSP00000473347.1:n.*1213A>T
ENST00000602661.5:c.1175A>T	ENSP00000473540.1:p.Tyr392Phe
ENST00000602661.6:c.*783A>T	ENSP00000473540.2:n.*783A>T
ENST00000642177.1:c.*390A>T	ENSP00000495864.1:n.*390A>T
ENST00000642537.1:c.*1443A>T	ENSP00000495945.1:n.*1443A>T
ENST00000642952.1:c.1515A>T	ENSP00000493886.1:n.1515A>T
ENST00000644273.1:c.458A>T
ENST00000645933.1:c.*1488A>T	ENSP00000495852.1:n.*1488A>T
ENST00000674563.1:c.*156A>T	ENSP00000502153.1:n.*156A>T
ENST00000674633.1:c.1175A>T	ENSP00000502164.1:p.Tyr392Phe
ENST00000675695.1:c.*156A>T	ENSP00000502460.1:n.*156A>T
ENST00000675736.1:c.*955A>T	ENSP00000502809.1:n.*955A>T
ENST00000676011.1:n.2539A>T
ENST00000676310.1:c.1175A>T	ENSP00000501585.1:p.Tyr392Phe
XM_006717014.2:c.783A>T	XP_006717077.1:p.Ile261=
XM_011518378.1:c.1378A>T	XP_011516680.1:p.Thr460Ser
XM_011518378.2:c.1378A>T	XP_011516680.1:p.Thr460Ser
XM_011518380.1:c.*114A>T	XP_011516682.1:n.*114A>T
XM_011518386.1:c.1206A>T	XP_011516688.1:p.Ile402=
XM_011518391.1:c.783A>T	XP_011516693.1:p.Ile261=
XM_011518391.2:c.783A>T	XP_011516693.1:p.Ile261=
XM_017014464.1:c.1175A>T	XP_016869953.1:p.Tyr392Phe
XM_017014465.1:c.1175A>T	XP_016869954.1:p.Tyr392Phe
XM_017014467.1:c.1175A>T	XP_016869956.1:p.Tyr392Phe
XM_017014468.1:c.1175A>T	XP_016869957.1:p.Tyr392Phe
XM_017014469.1:c.1175A>T	XP_016869958.1:p.Tyr392Phe
XM_017014470.1:c.1175A>T	XP_016869959.1:p.Tyr392Phe
XR_001746242.2:n.1742A>T
XR_001746243.2:n.1861A>T
XR_001746244.2:n.1570A>T
XR_001746245.1:n.1561A>T
XR_001746248.1:n.2654A>T
XR_002956770.1:n.1417A>T