Canonical Allele Identifier: CA2691078662

Gene: FKTN

Linked Data

• gnomAD v4: 9-105640423-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105640423C>T , CM000671.2:g.105640423C>T	GRCh38
NC_000009.11:g.108402704C>T , CM000671.1:g.108402704C>T	GRCh37
NC_000009.10:g.107442525C>T	NCBI36
NG_008754.1:g.87294C>T , LRG_434:g.87294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357998.10:c.*5159C>T MANE Select	ENSP00000350687.6:n.*5159C>T
ENST00000642952.1:c.1933C>T	ENSP00000493886.1:n.1933C>T
ENST00000644273.1:c.876C>T
ENST00000674633.1:c.1271-4281C>T	ENSP00000502164.1:n.1271-4281C>T
ENST00000675695.1:c.*5526C>T	ENSP00000502460.1:n.*5526C>T
ENST00000676310.1:c.1270+5275C>T	ENSP00000501585.1:n.1270+5275C>T
ENST00000223528.6:c.*5159C>T	ENSP00000223528.2:n.*5159C>T
ENST00000357998.9:c.*300C>T	ENSP00000350687.5:n.*300C>T
ENST00000602526.1:c.*6583C>T	ENSP00000473347.1:n.*6583C>T
NM_001079802.1:c.*5159C>T , LRG_434t1:c.*5159C>T	NP_001073270.1:n.*5159C>T
NM_001198963.1:c.*300C>T	NP_001185892.1:n.*300C>T
NM_006731.2:c.*5159C>T , LRG_434t2:c.*5159C>T	NP_006722.2:n.*5159C>T
XM_006717014.2:c.*5337C>T	XP_006717077.1:n.*5337C>T
NM_001351496.1:c.*5159C>T	NP_001338425.1:n.*5159C>T
NM_001351497.1:c.*5159C>T	NP_001338426.1:n.*5159C>T
NM_001351498.1:c.*5337C>T	NP_001338427.1:n.*5337C>T
NM_001351499.1:c.*5159C>T	NP_001338428.1:n.*5159C>T
NM_001351500.1:c.*5159C>T	NP_001338429.1:n.*5159C>T
NM_001351501.1:c.*5159C>T	NP_001338430.1:n.*5159C>T
NM_001351502.1:c.*5159C>T	NP_001338431.1:n.*5159C>T
NR_147213.1:n.6669C>T
NR_147214.1:n.6841C>T
XM_011518391.2:c.*5337C>T	XP_011516693.1:n.*5337C>T
XM_017014464.1:c.1271-5042C>T	XP_016869953.1:n.1271-5042C>T
XM_017014465.1:c.1271-5042C>T	XP_016869954.1:n.1271-5042C>T
XM_017014467.1:c.*5159C>T	XP_016869956.1:n.*5159C>T
XM_017014468.1:c.*5159C>T	XP_016869957.1:n.*5159C>T
XM_017014469.1:c.1271-5042C>T	XP_016869958.1:n.1271-5042C>T
XM_017014470.1:c.1271-4281C>T	XP_016869959.1:n.1271-4281C>T
XR_001746242.2:n.1838-5042C>T
XR_001746244.2:n.1666-5042C>T
XR_001746245.1:n.6931C>T
XR_001746248.1:n.8024C>T
XR_002956770.1:n.6787C>T
NM_001079802.2:c.*5159C>T MANE Select	NP_001073270.1:n.*5159C>T
NM_001198963.2:c.*300C>T	NP_001185892.1:n.*300C>T
NM_001351496.2:c.*5159C>T	NP_001338425.1:n.*5159C>T
NM_001351497.2:c.*5159C>T	NP_001338426.1:n.*5159C>T
NM_001351498.2:c.*5337C>T	NP_001338427.1:n.*5337C>T
NM_001351499.2:c.*5159C>T	NP_001338428.1:n.*5159C>T
NM_001351500.2:c.*5159C>T	NP_001338429.1:n.*5159C>T
NM_001351501.2:c.*5159C>T	NP_001338430.1:n.*5159C>T
NM_001351502.2:c.*5159C>T	NP_001338431.1:n.*5159C>T
NR_147213.2:n.6668C>T
NR_147214.2:n.6840C>T