Canonical Allele Identifier: CA2691078646

Gene: FKTN

Linked Data

• gnomAD v4: 9-105640407-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105640407G>T , CM000671.2:g.105640407G>T	GRCh38
NC_000009.11:g.108402688G>T , CM000671.1:g.108402688G>T	GRCh37
NC_000009.10:g.107442509G>T	NCBI36
NG_008754.1:g.87278G>T , LRG_434:g.87278G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357998.10:c.*5143G>T MANE Select	ENSP00000350687.6:n.*5143G>T
ENST00000642952.1:c.1917G>T	ENSP00000493886.1:n.1917G>T
ENST00000644273.1:c.860G>T
ENST00000674633.1:c.1271-4297G>T	ENSP00000502164.1:n.1271-4297G>T
ENST00000675695.1:c.*5510G>T	ENSP00000502460.1:n.*5510G>T
ENST00000676310.1:c.1270+5259G>T	ENSP00000501585.1:n.1270+5259G>T
ENST00000223528.6:c.*5143G>T	ENSP00000223528.2:n.*5143G>T
ENST00000357998.9:c.*284G>T	ENSP00000350687.5:n.*284G>T
ENST00000602526.1:c.*6567G>T	ENSP00000473347.1:n.*6567G>T
NM_001079802.1:c.*5143G>T , LRG_434t1:c.*5143G>T	NP_001073270.1:n.*5143G>T
NM_001198963.1:c.*284G>T	NP_001185892.1:n.*284G>T
NM_006731.2:c.*5143G>T , LRG_434t2:c.*5143G>T	NP_006722.2:n.*5143G>T
XM_006717014.2:c.*5321G>T	XP_006717077.1:n.*5321G>T
NM_001351496.1:c.*5143G>T	NP_001338425.1:n.*5143G>T
NM_001351497.1:c.*5143G>T	NP_001338426.1:n.*5143G>T
NM_001351498.1:c.*5321G>T	NP_001338427.1:n.*5321G>T
NM_001351499.1:c.*5143G>T	NP_001338428.1:n.*5143G>T
NM_001351500.1:c.*5143G>T	NP_001338429.1:n.*5143G>T
NM_001351501.1:c.*5143G>T	NP_001338430.1:n.*5143G>T
NM_001351502.1:c.*5143G>T	NP_001338431.1:n.*5143G>T
NR_147213.1:n.6653G>T
NR_147214.1:n.6825G>T
XM_011518391.2:c.*5321G>T	XP_011516693.1:n.*5321G>T
XM_017014464.1:c.1271-5058G>T	XP_016869953.1:n.1271-5058G>T
XM_017014465.1:c.1271-5058G>T	XP_016869954.1:n.1271-5058G>T
XM_017014467.1:c.*5143G>T	XP_016869956.1:n.*5143G>T
XM_017014468.1:c.*5143G>T	XP_016869957.1:n.*5143G>T
XM_017014469.1:c.1271-5058G>T	XP_016869958.1:n.1271-5058G>T
XM_017014470.1:c.1271-4297G>T	XP_016869959.1:n.1271-4297G>T
XR_001746242.2:n.1838-5058G>T
XR_001746244.2:n.1666-5058G>T
XR_001746245.1:n.6915G>T
XR_001746248.1:n.8008G>T
XR_002956770.1:n.6771G>T
NM_001079802.2:c.*5143G>T MANE Select	NP_001073270.1:n.*5143G>T
NM_001198963.2:c.*284G>T	NP_001185892.1:n.*284G>T
NM_001351496.2:c.*5143G>T	NP_001338425.1:n.*5143G>T
NM_001351497.2:c.*5143G>T	NP_001338426.1:n.*5143G>T
NM_001351498.2:c.*5321G>T	NP_001338427.1:n.*5321G>T
NM_001351499.2:c.*5143G>T	NP_001338428.1:n.*5143G>T
NM_001351500.2:c.*5143G>T	NP_001338429.1:n.*5143G>T
NM_001351501.2:c.*5143G>T	NP_001338430.1:n.*5143G>T
NM_001351502.2:c.*5143G>T	NP_001338431.1:n.*5143G>T
NR_147213.2:n.6652G>T
NR_147214.2:n.6824G>T