Canonical Allele Identifier: CA10632111

Gene: FKTN

Linked Data

• ClinVar Variation Id: 364486
• ClinVar RCV Id: RCV000342846 ; RCV000404774 ; RCV000424549 ; RCV003897811
• dbSNP Id: rs151250905
• gnomAD v2: 9-108336020-T-C
• gnomAD v3: 9-105573739-T-C
• gnomAD v4: 9-105573739-T-C
• MyVariant Identifiers: chr9:g.108336020T>C (hg19) ; chr9:g.105573739T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105573739T>C , CM000671.2:g.105573739T>C	GRCh38
NC_000009.11:g.108336020T>C , CM000671.1:g.108336020T>C	GRCh37
NC_000009.10:g.107375841T>C	NCBI36
NG_008754.1:g.20610T>C , LRG_434:g.20610T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000357998.10:c.-96T>C MANE Select	ENSP00000350687.6:n.-96T>C
ENST00000602661.6:c.-177T>C	ENSP00000473540.2:n.-177T>C
ENST00000674563.1:c.-96T>C	ENSP00000502153.1:n.-96T>C
ENST00000675232.1:c.-96T>C	ENSP00000502043.1:n.-96T>C
ENST00000675443.1:c.-88-1206T>C	ENSP00000502643.1:n.-88-1206T>C
ENST00000675668.1:c.-231T>C	ENSP00000502113.1:n.-231T>C
ENST00000675695.1:c.-96T>C	ENSP00000502460.1:n.-96T>C
ENST00000675736.1:c.-96T>C	ENSP00000502809.1:n.-96T>C
ENST00000223528.6:c.-88-1206T>C	ENSP00000223528.2:n.-88-1206T>C
ENST00000448551.6:c.-96T>C	ENSP00000399140.2:n.-96T>C
ENST00000479846.1:n.101T>C
ENST00000490134.1:n.26-1206T>C
ENST00000602661.5:c.-96T>C	ENSP00000473540.1:n.-96T>C
NM_001079802.1:c.-96T>C , LRG_434t1:c.-96T>C	NP_001073270.1:n.-96T>C
NM_001198963.1:c.-96T>C	NP_001185892.1:n.-96T>C
NM_006731.2:c.-88-1206T>C , LRG_434t2:c.-88-1206T>C	NP_006722.2:n.-88-1206T>C
XM_006717014.2:c.-88-1206T>C	XP_006717077.1:n.-88-1206T>C
XM_011518368.1:c.-231T>C	XP_011516670.1:n.-231T>C
XM_011518369.1:c.-96T>C	XP_011516671.1:n.-96T>C
XM_011518370.1:c.-231T>C	XP_011516672.1:n.-231T>C
XM_011518371.1:c.-231T>C	XP_011516673.1:n.-231T>C
XM_011518372.1:c.-231T>C	XP_011516674.1:n.-231T>C
XM_011518373.1:c.-177T>C	XP_011516675.1:n.-177T>C
XM_011518374.1:c.-88-1206T>C	XP_011516676.1:n.-88-1206T>C
XM_011518376.1:c.-88-1206T>C	XP_011516678.1:n.-88-1206T>C
XM_011518377.1:c.-231T>C	XP_011516679.1:n.-231T>C
XM_011518378.1:c.-231T>C	XP_011516680.1:n.-231T>C
XM_011518380.1:c.-231T>C	XP_011516682.1:n.-231T>C
XM_011518381.1:c.-345-1206T>C	XP_011516683.1:n.-345-1206T>C
XM_011518386.1:c.-231T>C	XP_011516688.1:n.-231T>C
XM_011518387.1:c.-231T>C	XP_011516689.1:n.-231T>C
XM_011518388.1:c.-231T>C	XP_011516690.1:n.-231T>C
XM_011518389.1:c.-231T>C	XP_011516691.1:n.-231T>C
XM_011518391.1:c.-231T>C	XP_011516693.1:n.-231T>C
NM_001351496.1:c.-231T>C	NP_001338425.1:n.-231T>C
NM_001351497.1:c.-398T>C	NP_001338426.1:n.-398T>C
NM_001351498.1:c.-88-1206T>C	NP_001338427.1:n.-88-1206T>C
NM_001351499.1:c.-745T>C	NP_001338428.1:n.-745T>C
NM_001351500.1:c.-610T>C	NP_001338429.1:n.-610T>C
NM_001351501.1:c.-602-1206T>C	NP_001338430.1:n.-602-1206T>C
NM_001351502.1:c.-691T>C	NP_001338431.1:n.-691T>C
NR_147213.1:n.121T>C
NR_147214.1:n.37-1206T>C
XM_011518368.2:c.-231T>C	XP_011516670.1:n.-231T>C
XM_011518369.2:c.-96T>C	XP_011516671.1:n.-96T>C
XM_011518370.2:c.-231T>C	XP_011516672.1:n.-231T>C
XM_011518371.2:c.-231T>C	XP_011516673.1:n.-231T>C
XM_011518373.2:c.-177T>C	XP_011516675.1:n.-177T>C
XM_011518374.2:c.-88-1206T>C	XP_011516676.1:n.-88-1206T>C
XM_011518376.2:c.-88-1206T>C	XP_011516678.1:n.-88-1206T>C
XM_011518378.2:c.-231T>C	XP_011516680.1:n.-231T>C
XM_011518381.3:c.-345-1206T>C	XP_011516683.1:n.-345-1206T>C
XM_011518387.2:c.-231T>C	XP_011516689.1:n.-231T>C
XM_011518391.2:c.-231T>C	XP_011516693.1:n.-231T>C
XM_017014462.1:c.-231T>C	XP_016869951.1:n.-231T>C
XM_017014463.1:c.-88-1206T>C	XP_016869952.1:n.-88-1206T>C
XM_017014464.1:c.-231T>C	XP_016869953.1:n.-231T>C
XM_017014465.1:c.-96T>C	XP_016869954.1:n.-96T>C
XM_017014467.1:c.-96T>C	XP_016869956.1:n.-96T>C
XM_017014468.1:c.-88-1206T>C	XP_016869957.1:n.-88-1206T>C
XM_017014469.1:c.-231T>C	XP_016869958.1:n.-231T>C
XM_017014470.1:c.-231T>C	XP_016869959.1:n.-231T>C
XM_017014472.2:c.-541T>C	XP_016869961.1:n.-541T>C
XM_017014475.1:c.-88-1206T>C	XP_016869964.1:n.-88-1206T>C
XR_001746242.2:n.134T>C
XR_001746243.2:n.134T>C
XR_001746244.2:n.134T>C
XR_001746245.1:n.119T>C
XR_001746248.1:n.1094T>C
XR_002956770.1:n.119T>C
NM_001079802.2:c.-96T>C MANE Select	NP_001073270.1:n.-96T>C
NM_001198963.2:c.-96T>C	NP_001185892.1:n.-96T>C
NM_001351496.2:c.-231T>C	NP_001338425.1:n.-231T>C
NM_001351497.2:c.-398T>C	NP_001338426.1:n.-398T>C
NM_001351498.2:c.-88-1206T>C	NP_001338427.1:n.-88-1206T>C
NM_001351499.2:c.-745T>C	NP_001338428.1:n.-745T>C
NM_001351500.2:c.-610T>C	NP_001338429.1:n.-610T>C
NM_001351501.2:c.-602-1206T>C	NP_001338430.1:n.-602-1206T>C
NM_001351502.2:c.-691T>C	NP_001338431.1:n.-691T>C
NR_147213.2:n.120T>C
NR_147214.2:n.36-1206T>C