Canonical Allele Identifier: CA5170596

Gene: FKTN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105635090T>G , CM000671.2:g.105635090T>G	GRCh38
NC_000009.11:g.108397371T>G , CM000671.1:g.108397371T>G	GRCh37
NC_000009.10:g.107437192T>G	NCBI36
NG_008754.1:g.81961T>G , LRG_434:g.81961T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001079802.2:c.1212T>G MANE Select	NP_001073270.1:p.Phe404Leu
ENST00000357998.10:c.1212T>G MANE Select	ENSP00000350687.6:p.Phe404Leu
NM_001079802.1:c.1212T>G , LRG_434t1:c.1212T>G	NP_001073270.1:p.Phe404Leu
NM_001198963.1:c.1212T>G	NP_001185892.1:p.Phe404Leu
NM_001198963.2:c.1212T>G	NP_001185892.1:p.Phe404Leu
NM_001351496.1:c.1212T>G	NP_001338425.1:p.Phe404Leu
NM_001351496.2:c.1212T>G	NP_001338425.1:p.Phe404Leu
NM_001351497.1:c.1143T>G	NP_001338426.1:p.Phe381Leu
NM_001351497.2:c.1143T>G	NP_001338426.1:p.Phe381Leu
NM_001351498.1:c.*4T>G	NP_001338427.1:n.*4T>G
NM_001351498.2:c.*4T>G	NP_001338427.1:n.*4T>G
NM_001351499.1:c.816T>G	NP_001338428.1:p.Phe272Leu
NM_001351499.2:c.816T>G	NP_001338428.1:p.Phe272Leu
NM_001351500.1:c.816T>G	NP_001338429.1:p.Phe272Leu
NM_001351500.2:c.816T>G	NP_001338429.1:p.Phe272Leu
NM_001351501.1:c.816T>G	NP_001338430.1:p.Phe272Leu
NM_001351501.2:c.816T>G	NP_001338430.1:p.Phe272Leu
NM_001351502.1:c.816T>G	NP_001338431.1:p.Phe272Leu
NM_001351502.2:c.816T>G	NP_001338431.1:p.Phe272Leu
NM_006731.2:c.1212T>G , LRG_434t2:c.1212T>G	NP_006722.2:p.Phe404Leu
NR_147213.1:n.1336T>G
NR_147213.2:n.1335T>G
NR_147214.1:n.1508T>G
NR_147214.2:n.1507T>G
ENST00000223528.6:c.1212T>G	ENSP00000223528.2:p.Phe404Leu
ENST00000357998.9:c.1212T>G	ENSP00000350687.5:p.Phe404Leu
ENST00000448551.6:c.1212T>G	ENSP00000399140.2:p.Phe404Leu
ENST00000457847.1:c.302T>G
ENST00000602526.1:c.*1250T>G	ENSP00000473347.1:n.*1250T>G
ENST00000602661.5:c.1212T>G	ENSP00000473540.1:p.Phe404Leu
ENST00000602661.6:c.*820T>G	ENSP00000473540.2:n.*820T>G
ENST00000642177.1:c.*427T>G	ENSP00000495864.1:n.*427T>G
ENST00000642537.1:c.*1480T>G	ENSP00000495945.1:n.*1480T>G
ENST00000642952.1:c.1552T>G	ENSP00000493886.1:n.1552T>G
ENST00000644273.1:c.495T>G
ENST00000645933.1:c.*1525T>G	ENSP00000495852.1:n.*1525T>G
ENST00000674563.1:c.*193T>G	ENSP00000502153.1:n.*193T>G
ENST00000674633.1:c.1212T>G	ENSP00000502164.1:p.Phe404Leu
ENST00000675695.1:c.*193T>G	ENSP00000502460.1:n.*193T>G
ENST00000675736.1:c.*992T>G	ENSP00000502809.1:n.*992T>G
ENST00000676011.1:n.2576T>G
ENST00000676310.1:c.1212T>G	ENSP00000501585.1:p.Phe404Leu
XM_006717014.2:c.*4T>G	XP_006717077.1:n.*4T>G
XM_011518378.1:c.1415T>G	XP_011516680.1:p.Leu472Trp
XM_011518378.2:c.1415T>G	XP_011516680.1:p.Leu472Trp
XM_011518380.1:c.*151T>G	XP_011516682.1:n.*151T>G
XM_011518386.1:c.*4T>G	XP_011516688.1:n.*4T>G
XM_011518391.1:c.*4T>G	XP_011516693.1:n.*4T>G
XM_011518391.2:c.*4T>G	XP_011516693.1:n.*4T>G
XM_017014464.1:c.1212T>G	XP_016869953.1:p.Phe404Leu
XM_017014465.1:c.1212T>G	XP_016869954.1:p.Phe404Leu
XM_017014467.1:c.1212T>G	XP_016869956.1:p.Phe404Leu
XM_017014468.1:c.1212T>G	XP_016869957.1:p.Phe404Leu
XM_017014469.1:c.1212T>G	XP_016869958.1:p.Phe404Leu
XM_017014470.1:c.1212T>G	XP_016869959.1:p.Phe404Leu
XR_001746242.2:n.1779T>G
XR_001746243.2:n.1898T>G
XR_001746244.2:n.1607T>G
XR_001746245.1:n.1598T>G
XR_001746248.1:n.2691T>G
XR_002956770.1:n.1454T>G