Canonical Allele Identifier: CA6034203

Gene: TKFC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61346403G>T , CM000673.2:g.61346403G>T	GRCh38
NC_000011.9:g.61113875G>T , CM000673.1:g.61113875G>T	GRCh37
NC_000011.8:g.60870451G>T	NCBI36
NG_032697.2:g.1194C>A , LRG_474:g.1194C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015533.4:c.1628G>T MANE Select	NP_056348.2:p.Arg543Ile
ENST00000394900.8:c.1628G>T MANE Select	ENSP00000378360.3:p.Arg543Ile
NM_001351976.1:c.1628G>T	NP_001338905.1:p.Arg543Ile
NM_001351976.2:c.1628G>T	NP_001338905.1:p.Arg543Ile
NM_001351977.1:c.1575+457G>T	NP_001338906.1:n.1575+457G>T
NM_001351977.2:c.1575+457G>T	NP_001338906.1:n.1575+457G>T
NM_001351978.1:c.1575+457G>T	NP_001338907.1:n.1575+457G>T
NM_001351978.2:c.1575+457G>T	NP_001338907.1:n.1575+457G>T
NM_001351979.1:c.*79G>T	NP_001338908.1:n.*79G>T
NM_001351979.2:c.*79G>T	NP_001338908.1:n.*79G>T
NM_001351980.1:c.*79G>T	NP_001338909.1:n.*79G>T
NM_001351980.2:c.*79G>T	NP_001338909.1:n.*79G>T
NM_015533.3:c.1628G>T	NP_056348.2:p.Arg543Ile
ENST00000394900.7:c.1628G>T	ENSP00000378360.3:p.Arg543Ile
ENST00000525366.5:n.429G>T
ENST00000529479.5:c.1681G>T	ENSP00000432539.1:n.1681G>T
ENST00000534084.1:c.528+457G>T	ENSP00000459382.1:n.528+457G>T
ENST00000617083.4:c.1631G>T	ENSP00000478735.1:p.Arg544Ile
XM_011544910.1:c.1713+457G>T	XP_011543212.1:n.1713+457G>T
XM_011544911.1:c.1713+457G>T	XP_011543213.1:n.1713+457G>T
XM_011544912.1:c.1713+457G>T	XP_011543214.1:n.1713+457G>T
XM_011544912.3:c.1713+457G>T	XP_011543214.1:n.1713+457G>T
XM_011544913.1:c.1713+457G>T	XP_011543215.1:n.1713+457G>T
XM_011544914.1:c.1766G>T	XP_011543216.1:p.Arg589Ile
XM_011544915.1:c.1713+457G>T	XP_011543217.1:n.1713+457G>T
XM_011544916.1:c.1575+457G>T	XP_011543218.1:n.1575+457G>T
XM_011544917.1:c.1575+457G>T	XP_011543219.1:n.1575+457G>T
XM_011544918.1:c.*79G>T	XP_011543220.1:n.*79G>T
XM_011544919.1:c.1365+457G>T	XP_011543221.1:n.1365+457G>T
XM_011544920.1:c.1365+457G>T	XP_011543222.1:n.1365+457G>T
XM_011544921.1:c.1365+457G>T	XP_011543223.1:n.1365+457G>T
XM_011544922.1:c.1365+457G>T	XP_011543224.1:n.1365+457G>T
XM_011544923.1:c.1365+457G>T	XP_011543225.1:n.1365+457G>T
XM_017017517.1:c.1766G>T	XP_016873006.1:p.Arg589Ile
XM_017017518.1:c.1713+457G>T	XP_016873007.1:n.1713+457G>T
XM_017017519.2:c.1575+457G>T	XP_016873008.1:n.1575+457G>T
XM_017017520.1:c.*79G>T	XP_016873009.1:n.*79G>T