Canonical Allele Identifier: CA197463113

Gene: FKTN

Linked Data

• dbSNP Id: rs1051604708
• gnomAD v2: 9-108399906-C-G
• gnomAD v3: 9-105637625-C-G
• gnomAD v4: 9-105637625-C-G
• MyVariant Identifiers: chr9:g.108399906C>G (hg19) ; chr9:g.105637625C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105637625C>G , CM000671.2:g.105637625C>G	GRCh38
NC_000009.11:g.108399906C>G , CM000671.1:g.108399906C>G	GRCh37
NC_000009.10:g.107439727C>G	NCBI36
NG_008754.1:g.84496C>G , LRG_434:g.84496C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357998.10:c.*2361C>G MANE Select	ENSP00000350687.6:n.*2361C>G
ENST00000642952.1:c.1611-2476C>G	ENSP00000493886.1:n.1611-2476C>G
ENST00000644273.1:c.554-2476C>G
ENST00000674633.1:c.1270+2477C>G	ENSP00000502164.1:n.1270+2477C>G
ENST00000675695.1:c.*2728C>G	ENSP00000502460.1:n.*2728C>G
ENST00000675736.1:c.*3527C>G	ENSP00000502809.1:n.*3527C>G
ENST00000676011.1:n.5111C>G
ENST00000676310.1:c.1270+2477C>G	ENSP00000501585.1:n.1270+2477C>G
ENST00000223528.6:c.*2361C>G	ENSP00000223528.2:n.*2361C>G
ENST00000357998.9:c.1271-2476C>G	ENSP00000350687.5:n.1271-2476C>G
ENST00000448551.6:c.1271-2476C>G	ENSP00000399140.2:n.1271-2476C>G
ENST00000602526.1:c.*3785C>G	ENSP00000473347.1:n.*3785C>G
NM_001079802.1:c.*2361C>G , LRG_434t1:c.*2361C>G	NP_001073270.1:n.*2361C>G
NM_001198963.1:c.1271-2476C>G	NP_001185892.1:n.1271-2476C>G
NM_006731.2:c.*2361C>G , LRG_434t2:c.*2361C>G	NP_006722.2:n.*2361C>G
XM_006717014.2:c.*2539C>G	XP_006717077.1:n.*2539C>G
NM_001351496.1:c.*2361C>G	NP_001338425.1:n.*2361C>G
NM_001351497.1:c.*2361C>G	NP_001338426.1:n.*2361C>G
NM_001351498.1:c.*2539C>G	NP_001338427.1:n.*2539C>G
NM_001351499.1:c.*2361C>G	NP_001338428.1:n.*2361C>G
NM_001351500.1:c.*2361C>G	NP_001338429.1:n.*2361C>G
NM_001351501.1:c.*2361C>G	NP_001338430.1:n.*2361C>G
NM_001351502.1:c.*2361C>G	NP_001338431.1:n.*2361C>G
NR_147213.1:n.3871C>G
NR_147214.1:n.4043C>G
XM_011518391.2:c.*2539C>G	XP_011516693.1:n.*2539C>G
XM_017014464.1:c.1270+2477C>G	XP_016869953.1:n.1270+2477C>G
XM_017014465.1:c.1270+2477C>G	XP_016869954.1:n.1270+2477C>G
XM_017014467.1:c.*2361C>G	XP_016869956.1:n.*2361C>G
XM_017014468.1:c.*2361C>G	XP_016869957.1:n.*2361C>G
XM_017014469.1:c.1270+2477C>G	XP_016869958.1:n.1270+2477C>G
XM_017014470.1:c.1270+2477C>G	XP_016869959.1:n.1270+2477C>G
XR_001746242.2:n.1837+2477C>G
XR_001746244.2:n.1665+2477C>G
XR_001746245.1:n.4133C>G
XR_001746248.1:n.5226C>G
XR_002956770.1:n.3989C>G
NM_001079802.2:c.*2361C>G MANE Select	NP_001073270.1:n.*2361C>G
NM_001198963.2:c.1271-2476C>G	NP_001185892.1:n.1271-2476C>G
NM_001351496.2:c.*2361C>G	NP_001338425.1:n.*2361C>G
NM_001351497.2:c.*2361C>G	NP_001338426.1:n.*2361C>G
NM_001351498.2:c.*2539C>G	NP_001338427.1:n.*2539C>G
NM_001351499.2:c.*2361C>G	NP_001338428.1:n.*2361C>G
NM_001351500.2:c.*2361C>G	NP_001338429.1:n.*2361C>G
NM_001351501.2:c.*2361C>G	NP_001338430.1:n.*2361C>G
NM_001351502.2:c.*2361C>G	NP_001338431.1:n.*2361C>G
NR_147213.2:n.3870C>G
NR_147214.2:n.4042C>G