Canonical Allele Identifier: CA1127730741

Gene: FKTN

Linked Data

• dbSNP Id: rs1834135267
• gnomAD v3: 9-105637606-G-C
• gnomAD v4: 9-105637606-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105637606G>C , CM000671.2:g.105637606G>C	GRCh38
NC_000009.11:g.108399887G>C , CM000671.1:g.108399887G>C	GRCh37
NC_000009.10:g.107439708G>C	NCBI36
NG_008754.1:g.84477G>C , LRG_434:g.84477G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000357998.10:c.*2342G>C MANE Select	ENSP00000350687.6:n.*2342G>C
ENST00000642952.1:c.1610+2458G>C	ENSP00000493886.1:n.1610+2458G>C
ENST00000644273.1:c.553+2458G>C
ENST00000674633.1:c.1270+2458G>C	ENSP00000502164.1:n.1270+2458G>C
ENST00000675695.1:c.*2709G>C	ENSP00000502460.1:n.*2709G>C
ENST00000675736.1:c.*3508G>C	ENSP00000502809.1:n.*3508G>C
ENST00000676011.1:n.5092G>C
ENST00000676310.1:c.1270+2458G>C	ENSP00000501585.1:n.1270+2458G>C
ENST00000223528.6:c.*2342G>C	ENSP00000223528.2:n.*2342G>C
ENST00000357998.9:c.1270+2458G>C	ENSP00000350687.5:n.1270+2458G>C
ENST00000448551.6:c.1270+2458G>C	ENSP00000399140.2:n.1270+2458G>C
ENST00000602526.1:c.*3766G>C	ENSP00000473347.1:n.*3766G>C
NM_001079802.1:c.*2342G>C , LRG_434t1:c.*2342G>C	NP_001073270.1:n.*2342G>C
NM_001198963.1:c.1270+2458G>C	NP_001185892.1:n.1270+2458G>C
NM_006731.2:c.*2342G>C , LRG_434t2:c.*2342G>C	NP_006722.2:n.*2342G>C
XM_006717014.2:c.*2520G>C	XP_006717077.1:n.*2520G>C
NM_001351496.1:c.*2342G>C	NP_001338425.1:n.*2342G>C
NM_001351497.1:c.*2342G>C	NP_001338426.1:n.*2342G>C
NM_001351498.1:c.*2520G>C	NP_001338427.1:n.*2520G>C
NM_001351499.1:c.*2342G>C	NP_001338428.1:n.*2342G>C
NM_001351500.1:c.*2342G>C	NP_001338429.1:n.*2342G>C
NM_001351501.1:c.*2342G>C	NP_001338430.1:n.*2342G>C
NM_001351502.1:c.*2342G>C	NP_001338431.1:n.*2342G>C
NR_147213.1:n.3852G>C
NR_147214.1:n.4024G>C
XM_011518391.2:c.*2520G>C	XP_011516693.1:n.*2520G>C
XM_017014464.1:c.1270+2458G>C	XP_016869953.1:n.1270+2458G>C
XM_017014465.1:c.1270+2458G>C	XP_016869954.1:n.1270+2458G>C
XM_017014467.1:c.*2342G>C	XP_016869956.1:n.*2342G>C
XM_017014468.1:c.*2342G>C	XP_016869957.1:n.*2342G>C
XM_017014469.1:c.1270+2458G>C	XP_016869958.1:n.1270+2458G>C
XM_017014470.1:c.1270+2458G>C	XP_016869959.1:n.1270+2458G>C
XR_001746242.2:n.1837+2458G>C
XR_001746244.2:n.1665+2458G>C
XR_001746245.1:n.4114G>C
XR_001746248.1:n.5207G>C
XR_002956770.1:n.3970G>C
NM_001079802.2:c.*2342G>C MANE Select	NP_001073270.1:n.*2342G>C
NM_001198963.2:c.1270+2458G>C	NP_001185892.1:n.1270+2458G>C
NM_001351496.2:c.*2342G>C	NP_001338425.1:n.*2342G>C
NM_001351497.2:c.*2342G>C	NP_001338426.1:n.*2342G>C
NM_001351498.2:c.*2520G>C	NP_001338427.1:n.*2520G>C
NM_001351499.2:c.*2342G>C	NP_001338428.1:n.*2342G>C
NM_001351500.2:c.*2342G>C	NP_001338429.1:n.*2342G>C
NM_001351501.2:c.*2342G>C	NP_001338430.1:n.*2342G>C
NM_001351502.2:c.*2342G>C	NP_001338431.1:n.*2342G>C
NR_147213.2:n.3851G>C
NR_147214.2:n.4023G>C