Canonical Allele Identifier: CA2553490903

Gene: FKTN

Linked Data

• gnomAD v4: 9-105636316-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105636316G>A , CM000671.2:g.105636316G>A	GRCh38
NC_000009.11:g.108398597G>A , CM000671.1:g.108398597G>A	GRCh37
NC_000009.10:g.107438418G>A	NCBI36
NG_008754.1:g.83187G>A , LRG_434:g.83187G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000357998.10:c.*1052G>A MANE Select	ENSP00000350687.6:n.*1052G>A
ENST00000642177.1:c.*486-357G>A	ENSP00000495864.1:n.*486-357G>A
ENST00000642537.1:c.*1539-357G>A	ENSP00000495945.1:n.*1539-357G>A
ENST00000642952.1:c.1610+1168G>A	ENSP00000493886.1:n.1610+1168G>A
ENST00000644273.1:c.553+1168G>A
ENST00000645933.1:c.*1584-357G>A	ENSP00000495852.1:n.*1584-357G>A
ENST00000674563.1:c.*1419G>A	ENSP00000502153.1:n.*1419G>A
ENST00000674633.1:c.1270+1168G>A	ENSP00000502164.1:n.1270+1168G>A
ENST00000675695.1:c.*1419G>A	ENSP00000502460.1:n.*1419G>A
ENST00000675736.1:c.*2218G>A	ENSP00000502809.1:n.*2218G>A
ENST00000676011.1:n.3802G>A
ENST00000676310.1:c.1270+1168G>A	ENSP00000501585.1:n.1270+1168G>A
ENST00000223528.6:c.*1052G>A	ENSP00000223528.2:n.*1052G>A
ENST00000357998.9:c.1270+1168G>A	ENSP00000350687.5:n.1270+1168G>A
ENST00000448551.6:c.1270+1168G>A	ENSP00000399140.2:n.1270+1168G>A
ENST00000457847.1:c.361-357G>A
ENST00000602526.1:c.*2476G>A	ENSP00000473347.1:n.*2476G>A
NM_001079802.1:c.*1052G>A , LRG_434t1:c.*1052G>A	NP_001073270.1:n.*1052G>A
NM_001198963.1:c.1270+1168G>A	NP_001185892.1:n.1270+1168G>A
NM_006731.2:c.*1052G>A , LRG_434t2:c.*1052G>A	NP_006722.2:n.*1052G>A
XM_006717014.2:c.*1230G>A	XP_006717077.1:n.*1230G>A
NM_001351496.1:c.*1052G>A	NP_001338425.1:n.*1052G>A
NM_001351497.1:c.*1052G>A	NP_001338426.1:n.*1052G>A
NM_001351498.1:c.*1230G>A	NP_001338427.1:n.*1230G>A
NM_001351499.1:c.*1052G>A	NP_001338428.1:n.*1052G>A
NM_001351500.1:c.*1052G>A	NP_001338429.1:n.*1052G>A
NM_001351501.1:c.*1052G>A	NP_001338430.1:n.*1052G>A
NM_001351502.1:c.*1052G>A	NP_001338431.1:n.*1052G>A
NR_147213.1:n.2562G>A
NR_147214.1:n.2734G>A
XM_011518391.2:c.*1230G>A	XP_011516693.1:n.*1230G>A
XM_017014464.1:c.1270+1168G>A	XP_016869953.1:n.1270+1168G>A
XM_017014465.1:c.1270+1168G>A	XP_016869954.1:n.1270+1168G>A
XM_017014467.1:c.*1052G>A	XP_016869956.1:n.*1052G>A
XM_017014468.1:c.*1052G>A	XP_016869957.1:n.*1052G>A
XM_017014469.1:c.1270+1168G>A	XP_016869958.1:n.1270+1168G>A
XM_017014470.1:c.1270+1168G>A	XP_016869959.1:n.1270+1168G>A
XR_001746242.2:n.1837+1168G>A
XR_001746244.2:n.1665+1168G>A
XR_001746245.1:n.2824G>A
XR_001746248.1:n.3917G>A
XR_002956770.1:n.2680G>A
NM_001079802.2:c.*1052G>A MANE Select	NP_001073270.1:n.*1052G>A
NM_001198963.2:c.1270+1168G>A	NP_001185892.1:n.1270+1168G>A
NM_001351496.2:c.*1052G>A	NP_001338425.1:n.*1052G>A
NM_001351497.2:c.*1052G>A	NP_001338426.1:n.*1052G>A
NM_001351498.2:c.*1230G>A	NP_001338427.1:n.*1230G>A
NM_001351499.2:c.*1052G>A	NP_001338428.1:n.*1052G>A
NM_001351500.2:c.*1052G>A	NP_001338429.1:n.*1052G>A
NM_001351501.2:c.*1052G>A	NP_001338430.1:n.*1052G>A
NM_001351502.2:c.*1052G>A	NP_001338431.1:n.*1052G>A
NR_147213.2:n.2561G>A
NR_147214.2:n.2733G>A