Canonical Allele Identifier: CA2560589390

Gene: FKTN

Linked Data

• gnomAD v4: 9-105638572-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105638572G>T , CM000671.2:g.105638572G>T	GRCh38
NC_000009.11:g.108400853G>T , CM000671.1:g.108400853G>T	GRCh37
NC_000009.10:g.107440674G>T	NCBI36
NG_008754.1:g.85443G>T , LRG_434:g.85443G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000357998.10:c.*3308G>T MANE Select	ENSP00000350687.6:n.*3308G>T
ENST00000642952.1:c.1611-1529G>T	ENSP00000493886.1:n.1611-1529G>T
ENST00000644273.1:c.554-1529G>T
ENST00000674633.1:c.1270+3424G>T	ENSP00000502164.1:n.1270+3424G>T
ENST00000675695.1:c.*3675G>T	ENSP00000502460.1:n.*3675G>T
ENST00000675736.1:c.*4474G>T	ENSP00000502809.1:n.*4474G>T
ENST00000676011.1:n.6058G>T
ENST00000676310.1:c.1270+3424G>T	ENSP00000501585.1:n.1270+3424G>T
ENST00000223528.6:c.*3308G>T	ENSP00000223528.2:n.*3308G>T
ENST00000357998.9:c.1271-1529G>T	ENSP00000350687.5:n.1271-1529G>T
ENST00000448551.6:c.1271-1529G>T	ENSP00000399140.2:n.1271-1529G>T
ENST00000602526.1:c.*4732G>T	ENSP00000473347.1:n.*4732G>T
NM_001079802.1:c.*3308G>T , LRG_434t1:c.*3308G>T	NP_001073270.1:n.*3308G>T
NM_001198963.1:c.1271-1529G>T	NP_001185892.1:n.1271-1529G>T
NM_006731.2:c.*3308G>T , LRG_434t2:c.*3308G>T	NP_006722.2:n.*3308G>T
XM_006717014.2:c.*3486G>T	XP_006717077.1:n.*3486G>T
NM_001351496.1:c.*3308G>T	NP_001338425.1:n.*3308G>T
NM_001351497.1:c.*3308G>T	NP_001338426.1:n.*3308G>T
NM_001351498.1:c.*3486G>T	NP_001338427.1:n.*3486G>T
NM_001351499.1:c.*3308G>T	NP_001338428.1:n.*3308G>T
NM_001351500.1:c.*3308G>T	NP_001338429.1:n.*3308G>T
NM_001351501.1:c.*3308G>T	NP_001338430.1:n.*3308G>T
NM_001351502.1:c.*3308G>T	NP_001338431.1:n.*3308G>T
NR_147213.1:n.4818G>T
NR_147214.1:n.4990G>T
XM_011518391.2:c.*3486G>T	XP_011516693.1:n.*3486G>T
XM_017014464.1:c.1270+3424G>T	XP_016869953.1:n.1270+3424G>T
XM_017014465.1:c.1270+3424G>T	XP_016869954.1:n.1270+3424G>T
XM_017014467.1:c.*3308G>T	XP_016869956.1:n.*3308G>T
XM_017014468.1:c.*3308G>T	XP_016869957.1:n.*3308G>T
XM_017014469.1:c.1270+3424G>T	XP_016869958.1:n.1270+3424G>T
XM_017014470.1:c.1270+3424G>T	XP_016869959.1:n.1270+3424G>T
XR_001746242.2:n.1837+3424G>T
XR_001746244.2:n.1665+3424G>T
XR_001746245.1:n.5080G>T
XR_001746248.1:n.6173G>T
XR_002956770.1:n.4936G>T
NM_001079802.2:c.*3308G>T MANE Select	NP_001073270.1:n.*3308G>T
NM_001198963.2:c.1271-1529G>T	NP_001185892.1:n.1271-1529G>T
NM_001351496.2:c.*3308G>T	NP_001338425.1:n.*3308G>T
NM_001351497.2:c.*3308G>T	NP_001338426.1:n.*3308G>T
NM_001351498.2:c.*3486G>T	NP_001338427.1:n.*3486G>T
NM_001351499.2:c.*3308G>T	NP_001338428.1:n.*3308G>T
NM_001351500.2:c.*3308G>T	NP_001338429.1:n.*3308G>T
NM_001351501.2:c.*3308G>T	NP_001338430.1:n.*3308G>T
NM_001351502.2:c.*3308G>T	NP_001338431.1:n.*3308G>T
NR_147213.2:n.4817G>T
NR_147214.2:n.4989G>T