Canonical Allele Identifier: CA858142680

Gene: FKTN

Linked Data

• dbSNP Id: rs1215182112
• gnomAD v3: 9-105636072-C-T
• gnomAD v4: 9-105636072-C-T
• MyVariant Identifiers: chr9:g.108398353C>T (hg19) ; chr9:g.105636072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105636072C>T , CM000671.2:g.105636072C>T	GRCh38
NC_000009.11:g.108398353C>T , CM000671.1:g.108398353C>T	GRCh37
NC_000009.10:g.107438174C>T	NCBI36
NG_008754.1:g.82943C>T , LRG_434:g.82943C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357998.10:c.*808C>T MANE Select	ENSP00000350687.6:n.*808C>T
ENST00000602661.6:c.*1802C>T	ENSP00000473540.2:n.*1802C>T
ENST00000642177.1:c.*486-601C>T	ENSP00000495864.1:n.*486-601C>T
ENST00000642537.1:c.*1539-601C>T	ENSP00000495945.1:n.*1539-601C>T
ENST00000642952.1:c.1610+924C>T	ENSP00000493886.1:n.1610+924C>T
ENST00000644273.1:c.553+924C>T
ENST00000645933.1:c.*1584-601C>T	ENSP00000495852.1:n.*1584-601C>T
ENST00000674563.1:c.*1175C>T	ENSP00000502153.1:n.*1175C>T
ENST00000674633.1:c.1270+924C>T	ENSP00000502164.1:n.1270+924C>T
ENST00000675695.1:c.*1175C>T	ENSP00000502460.1:n.*1175C>T
ENST00000675736.1:c.*1974C>T	ENSP00000502809.1:n.*1974C>T
ENST00000676011.1:n.3558C>T
ENST00000676310.1:c.1270+924C>T	ENSP00000501585.1:n.1270+924C>T
ENST00000223528.6:c.*808C>T	ENSP00000223528.2:n.*808C>T
ENST00000357998.9:c.1270+924C>T	ENSP00000350687.5:n.1270+924C>T
ENST00000448551.6:c.1270+924C>T	ENSP00000399140.2:n.1270+924C>T
ENST00000457847.1:c.361-601C>T
ENST00000602526.1:c.*2232C>T	ENSP00000473347.1:n.*2232C>T
ENST00000602661.5:c.*808C>T	ENSP00000473540.1:n.*808C>T
NM_001079802.1:c.*808C>T , LRG_434t1:c.*808C>T	NP_001073270.1:n.*808C>T
NM_001198963.1:c.1270+924C>T	NP_001185892.1:n.1270+924C>T
NM_006731.2:c.*808C>T , LRG_434t2:c.*808C>T	NP_006722.2:n.*808C>T
XM_006717014.2:c.*986C>T	XP_006717077.1:n.*986C>T
NM_001351496.1:c.*808C>T	NP_001338425.1:n.*808C>T
NM_001351497.1:c.*808C>T	NP_001338426.1:n.*808C>T
NM_001351498.1:c.*986C>T	NP_001338427.1:n.*986C>T
NM_001351499.1:c.*808C>T	NP_001338428.1:n.*808C>T
NM_001351500.1:c.*808C>T	NP_001338429.1:n.*808C>T
NM_001351501.1:c.*808C>T	NP_001338430.1:n.*808C>T
NM_001351502.1:c.*808C>T	NP_001338431.1:n.*808C>T
NR_147213.1:n.2318C>T
NR_147214.1:n.2490C>T
XM_011518391.2:c.*986C>T	XP_011516693.1:n.*986C>T
XM_017014464.1:c.1270+924C>T	XP_016869953.1:n.1270+924C>T
XM_017014465.1:c.1270+924C>T	XP_016869954.1:n.1270+924C>T
XM_017014467.1:c.*808C>T	XP_016869956.1:n.*808C>T
XM_017014468.1:c.*808C>T	XP_016869957.1:n.*808C>T
XM_017014469.1:c.1270+924C>T	XP_016869958.1:n.1270+924C>T
XM_017014470.1:c.1270+924C>T	XP_016869959.1:n.1270+924C>T
XR_001746242.2:n.1837+924C>T
XR_001746244.2:n.1665+924C>T
XR_001746245.1:n.2580C>T
XR_001746248.1:n.3673C>T
XR_002956770.1:n.2436C>T
NM_001079802.2:c.*808C>T MANE Select	NP_001073270.1:n.*808C>T
NM_001198963.2:c.1270+924C>T	NP_001185892.1:n.1270+924C>T
NM_001351496.2:c.*808C>T	NP_001338425.1:n.*808C>T
NM_001351497.2:c.*808C>T	NP_001338426.1:n.*808C>T
NM_001351498.2:c.*986C>T	NP_001338427.1:n.*986C>T
NM_001351499.2:c.*808C>T	NP_001338428.1:n.*808C>T
NM_001351500.2:c.*808C>T	NP_001338429.1:n.*808C>T
NM_001351501.2:c.*808C>T	NP_001338430.1:n.*808C>T
NM_001351502.2:c.*808C>T	NP_001338431.1:n.*808C>T
NR_147213.2:n.2317C>T
NR_147214.2:n.2489C>T