Canonical Allele Identifier: CA10626202

Gene: FKTN

Linked Data

• ClinVar Variation Id: 364526
• ClinVar RCV Id: RCV000280911 ; RCV000375176 ; RCV002504192
• dbSNP Id: rs886063341
• gnomAD v2: 9-108402706-C-T
• gnomAD v3: 9-105640425-C-T
• gnomAD v4: 9-105640425-C-T
• MyVariant Identifiers: chr9:g.108402706C>T (hg19) ; chr9:g.105640425C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105640425C>T , CM000671.2:g.105640425C>T	GRCh38
NC_000009.11:g.108402706C>T , CM000671.1:g.108402706C>T	GRCh37
NC_000009.10:g.107442527C>T	NCBI36
NG_008754.1:g.87296C>T , LRG_434:g.87296C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000357998.10:c.*5161C>T MANE Select	ENSP00000350687.6:n.*5161C>T
ENST00000642952.1:c.1935C>T	ENSP00000493886.1:n.1935C>T
ENST00000644273.1:c.878C>T
ENST00000674633.1:c.1271-4279C>T	ENSP00000502164.1:n.1271-4279C>T
ENST00000675695.1:c.*5528C>T	ENSP00000502460.1:n.*5528C>T
ENST00000676310.1:c.1270+5277C>T	ENSP00000501585.1:n.1270+5277C>T
ENST00000223528.6:c.*5161C>T	ENSP00000223528.2:n.*5161C>T
ENST00000357998.9:c.*302C>T	ENSP00000350687.5:n.*302C>T
ENST00000602526.1:c.*6585C>T	ENSP00000473347.1:n.*6585C>T
NM_001079802.1:c.*5161C>T , LRG_434t1:c.*5161C>T	NP_001073270.1:n.*5161C>T
NM_001198963.1:c.*302C>T	NP_001185892.1:n.*302C>T
NM_006731.2:c.*5161C>T , LRG_434t2:c.*5161C>T	NP_006722.2:n.*5161C>T
XM_006717014.2:c.*5339C>T	XP_006717077.1:n.*5339C>T
NM_001351496.1:c.*5161C>T	NP_001338425.1:n.*5161C>T
NM_001351497.1:c.*5161C>T	NP_001338426.1:n.*5161C>T
NM_001351498.1:c.*5339C>T	NP_001338427.1:n.*5339C>T
NM_001351499.1:c.*5161C>T	NP_001338428.1:n.*5161C>T
NM_001351500.1:c.*5161C>T	NP_001338429.1:n.*5161C>T
NM_001351501.1:c.*5161C>T	NP_001338430.1:n.*5161C>T
NM_001351502.1:c.*5161C>T	NP_001338431.1:n.*5161C>T
NR_147213.1:n.6671C>T
NR_147214.1:n.6843C>T
XM_011518391.2:c.*5339C>T	XP_011516693.1:n.*5339C>T
XM_017014464.1:c.1271-5040C>T	XP_016869953.1:n.1271-5040C>T
XM_017014465.1:c.1271-5040C>T	XP_016869954.1:n.1271-5040C>T
XM_017014467.1:c.*5161C>T	XP_016869956.1:n.*5161C>T
XM_017014468.1:c.*5161C>T	XP_016869957.1:n.*5161C>T
XM_017014469.1:c.1271-5040C>T	XP_016869958.1:n.1271-5040C>T
XM_017014470.1:c.1271-4279C>T	XP_016869959.1:n.1271-4279C>T
XR_001746242.2:n.1838-5040C>T
XR_001746244.2:n.1666-5040C>T
XR_001746245.1:n.6933C>T
XR_001746248.1:n.8026C>T
XR_002956770.1:n.6789C>T
NM_001079802.2:c.*5161C>T MANE Select	NP_001073270.1:n.*5161C>T
NM_001198963.2:c.*302C>T	NP_001185892.1:n.*302C>T
NM_001351496.2:c.*5161C>T	NP_001338425.1:n.*5161C>T
NM_001351497.2:c.*5161C>T	NP_001338426.1:n.*5161C>T
NM_001351498.2:c.*5339C>T	NP_001338427.1:n.*5339C>T
NM_001351499.2:c.*5161C>T	NP_001338428.1:n.*5161C>T
NM_001351500.2:c.*5161C>T	NP_001338429.1:n.*5161C>T
NM_001351501.2:c.*5161C>T	NP_001338430.1:n.*5161C>T
NM_001351502.2:c.*5161C>T	NP_001338431.1:n.*5161C>T
NR_147213.2:n.6670C>T
NR_147214.2:n.6842C>T