Canonical Allele Identifier: CA374378010
Community Standard Title: NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter)
Gene: FKTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105635054C>G , CM000671.2:g.105635054C>G GRCh38
NC_000009.11:g.108397335C>G , CM000671.1:g.108397335C>G GRCh37
NC_000009.10:g.107437156C>G NCBI36
NG_008754.1:g.81925C>G , LRG_434:g.81925C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001079802.2:c.1176C>G MANE Select NP_001073270.1:p.Tyr392Ter
ENST00000357998.10:c.1176C>G MANE Select ENSP00000350687.6:p.Tyr392Ter
NM_001079802.1:c.1176C>G , LRG_434t1:c.1176C>G NP_001073270.1:p.Tyr392Ter
NM_001198963.1:c.1176C>G NP_001185892.1:p.Tyr392Ter
NM_001198963.2:c.1176C>G NP_001185892.1:p.Tyr392Ter
NM_001351496.1:c.1176C>G NP_001338425.1:p.Tyr392Ter
NM_001351496.2:c.1176C>G NP_001338425.1:p.Tyr392Ter
NM_001351497.1:c.1107C>G NP_001338426.1:p.Tyr369Ter
NM_001351497.2:c.1107C>G NP_001338426.1:p.Tyr369Ter
NM_001351498.1:c.1207C>G NP_001338427.1:p.Pro403Ala
NM_001351498.2:c.1207C>G NP_001338427.1:p.Pro403Ala
NM_001351499.1:c.780C>G NP_001338428.1:p.Tyr260Ter
NM_001351499.2:c.780C>G NP_001338428.1:p.Tyr260Ter
NM_001351500.1:c.780C>G NP_001338429.1:p.Tyr260Ter
NM_001351500.2:c.780C>G NP_001338429.1:p.Tyr260Ter
NM_001351501.1:c.780C>G NP_001338430.1:p.Tyr260Ter
NM_001351501.2:c.780C>G NP_001338430.1:p.Tyr260Ter
NM_001351502.1:c.780C>G NP_001338431.1:p.Tyr260Ter
NM_001351502.2:c.780C>G NP_001338431.1:p.Tyr260Ter
NM_006731.2:c.1176C>G , LRG_434t2:c.1176C>G NP_006722.2:p.Tyr392Ter
NR_147213.1:n.1300C>G
NR_147213.2:n.1299C>G
NR_147214.1:n.1472C>G
NR_147214.2:n.1471C>G
ENST00000223528.6:c.1176C>G ENSP00000223528.2:p.Tyr392Ter
ENST00000357998.9:c.1176C>G ENSP00000350687.5:p.Tyr392Ter
ENST00000448551.6:c.1176C>G ENSP00000399140.2:p.Tyr392Ter
ENST00000457847.1:c.266C>G
ENST00000602526.1:c.*1214C>G ENSP00000473347.1:n.*1214C>G
ENST00000602661.5:c.1176C>G ENSP00000473540.1:p.Tyr392Ter
ENST00000602661.6:c.*784C>G ENSP00000473540.2:n.*784C>G
ENST00000642177.1:c.*391C>G ENSP00000495864.1:n.*391C>G
ENST00000642537.1:c.*1444C>G ENSP00000495945.1:n.*1444C>G
ENST00000642952.1:c.1516C>G ENSP00000493886.1:n.1516C>G
ENST00000644273.1:c.459C>G
ENST00000645933.1:c.*1489C>G ENSP00000495852.1:n.*1489C>G
ENST00000674563.1:c.*157C>G ENSP00000502153.1:n.*157C>G
ENST00000674633.1:c.1176C>G ENSP00000502164.1:p.Tyr392Ter
ENST00000675695.1:c.*157C>G ENSP00000502460.1:n.*157C>G
ENST00000675736.1:c.*956C>G ENSP00000502809.1:n.*956C>G
ENST00000676011.1:n.2540C>G
ENST00000676310.1:c.1176C>G ENSP00000501585.1:p.Tyr392Ter
XM_006717014.2:c.784C>G XP_006717077.1:p.Pro262Ala
XM_011518378.1:c.1379C>G XP_011516680.1:p.Thr460Ser
XM_011518378.2:c.1379C>G XP_011516680.1:p.Thr460Ser
XM_011518380.1:c.*115C>G XP_011516682.1:n.*115C>G
XM_011518386.1:c.1207C>G XP_011516688.1:p.Pro403Ala
XM_011518391.1:c.784C>G XP_011516693.1:p.Pro262Ala
XM_011518391.2:c.784C>G XP_011516693.1:p.Pro262Ala
XM_017014464.1:c.1176C>G XP_016869953.1:p.Tyr392Ter
XM_017014465.1:c.1176C>G XP_016869954.1:p.Tyr392Ter
XM_017014467.1:c.1176C>G XP_016869956.1:p.Tyr392Ter
XM_017014468.1:c.1176C>G XP_016869957.1:p.Tyr392Ter
XM_017014469.1:c.1176C>G XP_016869958.1:p.Tyr392Ter
XM_017014470.1:c.1176C>G XP_016869959.1:p.Tyr392Ter
XR_001746242.2:n.1743C>G
XR_001746243.2:n.1862C>G
XR_001746244.2:n.1571C>G
XR_001746245.1:n.1562C>G
XR_001746248.1:n.2655C>G
XR_002956770.1:n.1418C>G