Canonical Allele Identifier: CA1870253327
Gene: FKTN HGNC NCBI

Linked Data

dbSNP Id: rs1834338132

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105640403A>T , CM000671.2:g.105640403A>T GRCh38
NC_000009.11:g.108402684A>T , CM000671.1:g.108402684A>T GRCh37
NC_000009.10:g.107442505A>T NCBI36
NG_008754.1:g.87274A>T , LRG_434:g.87274A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357998.10:c.*5139A>T MANE Select ENSP00000350687.6:n.*5139A>T
ENST00000642952.1:c.1913A>T ENSP00000493886.1:n.1913A>T
ENST00000644273.1:c.856A>T
ENST00000674633.1:c.1271-4301A>T ENSP00000502164.1:n.1271-4301A>T
ENST00000675695.1:c.*5506A>T ENSP00000502460.1:n.*5506A>T
ENST00000676310.1:c.1270+5255A>T ENSP00000501585.1:n.1270+5255A>T
ENST00000223528.6:c.*5139A>T ENSP00000223528.2:n.*5139A>T
ENST00000357998.9:c.*280A>T ENSP00000350687.5:n.*280A>T
ENST00000602526.1:c.*6563A>T ENSP00000473347.1:n.*6563A>T
NM_001079802.1:c.*5139A>T , LRG_434t1:c.*5139A>T NP_001073270.1:n.*5139A>T
NM_001198963.1:c.*280A>T NP_001185892.1:n.*280A>T
NM_006731.2:c.*5139A>T , LRG_434t2:c.*5139A>T NP_006722.2:n.*5139A>T
XM_006717014.2:c.*5317A>T XP_006717077.1:n.*5317A>T
NM_001351496.1:c.*5139A>T NP_001338425.1:n.*5139A>T
NM_001351497.1:c.*5139A>T NP_001338426.1:n.*5139A>T
NM_001351498.1:c.*5317A>T NP_001338427.1:n.*5317A>T
NM_001351499.1:c.*5139A>T NP_001338428.1:n.*5139A>T
NM_001351500.1:c.*5139A>T NP_001338429.1:n.*5139A>T
NM_001351501.1:c.*5139A>T NP_001338430.1:n.*5139A>T
NM_001351502.1:c.*5139A>T NP_001338431.1:n.*5139A>T
NR_147213.1:n.6649A>T
NR_147214.1:n.6821A>T
XM_011518391.2:c.*5317A>T XP_011516693.1:n.*5317A>T
XM_017014464.1:c.1271-5062A>T XP_016869953.1:n.1271-5062A>T
XM_017014465.1:c.1271-5062A>T XP_016869954.1:n.1271-5062A>T
XM_017014467.1:c.*5139A>T XP_016869956.1:n.*5139A>T
XM_017014468.1:c.*5139A>T XP_016869957.1:n.*5139A>T
XM_017014469.1:c.1271-5062A>T XP_016869958.1:n.1271-5062A>T
XM_017014470.1:c.1271-4301A>T XP_016869959.1:n.1271-4301A>T
XR_001746242.2:n.1838-5062A>T
XR_001746244.2:n.1666-5062A>T
XR_001746245.1:n.6911A>T
XR_001746248.1:n.8004A>T
XR_002956770.1:n.6767A>T
NM_001079802.2:c.*5139A>T MANE Select NP_001073270.1:n.*5139A>T
NM_001198963.2:c.*280A>T NP_001185892.1:n.*280A>T
NM_001351496.2:c.*5139A>T NP_001338425.1:n.*5139A>T
NM_001351497.2:c.*5139A>T NP_001338426.1:n.*5139A>T
NM_001351498.2:c.*5317A>T NP_001338427.1:n.*5317A>T
NM_001351499.2:c.*5139A>T NP_001338428.1:n.*5139A>T
NM_001351500.2:c.*5139A>T NP_001338429.1:n.*5139A>T
NM_001351501.2:c.*5139A>T NP_001338430.1:n.*5139A>T
NM_001351502.2:c.*5139A>T NP_001338431.1:n.*5139A>T
NR_147213.2:n.6648A>T
NR_147214.2:n.6820A>T