Canonical Allele Identifier: CA346414999

Gene: IFT172 KRTCAP3

Linked Data

• MyVariant Identifiers: chr2:g.27668796A>T (hg19) ; chr2:g.27445929A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27445929A>T , CM000664.2:g.27445929A>T	GRCh38
NC_000002.11:g.27668796A>T , CM000664.1:g.27668796A>T	GRCh37
NC_000002.10:g.27522300A>T	NCBI36
NG_034068.1:g.48883T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.4815T>A (IFT172) MANE Select	ENSP00000260570.3:p.Asp1605Glu
ENST00000674594.1:n.1427T>A (IFT172)
ENST00000674701.1:c.*4328T>A (IFT172)	ENSP00000502275.1:n.*4328T>A
ENST00000674824.1:c.*3263T>A (IFT172)	ENSP00000501824.1:n.*3263T>A
ENST00000674932.1:c.*5261T>A (IFT172)	ENSP00000501967.1:n.*5261T>A
ENST00000675410.1:c.*2804T>A (IFT172)	ENSP00000502030.1:n.*2804T>A
ENST00000675690.1:c.4749T>A (IFT172)	ENSP00000502283.1:p.Asp1583Glu
ENST00000676119.1:c.*4041T>A (IFT172)	ENSP00000501701.1:n.*4041T>A
ENST00000260570.7:c.4815T>A (IFT172)	ENSP00000260570.3:p.Asp1605Glu
ENST00000420854.1:c.387T>A (IFT172)	ENSP00000398633.1:p.Asp129Glu
ENST00000452499.1:c.195-372A>T (KRTCAP3)	ENSP00000388115.1:n.195-372A>T
ENST00000479419.1:n.277T>A (IFT172)
ENST00000494163.1:n.268T>A (IFT172)
ENST00000507184.5:n.5096T>A (IFT172)
ENST00000509128.5:c.1233T>A (IFT172)
ENST00000543753.5:c.*6-372A>T (KRTCAP3)	ENSP00000442400.1:n.*6-372A>T
NM_001168364.1:c.*6-372A>T (KRTCAP3)	NP_001161836.1:n.*6-372A>T
NM_015662.2:c.4815T>A (IFT172)	NP_056477.1:p.Asp1605Glu
XM_005264254.1:c.4749T>A (IFT172)	XP_005264311.1:p.Asp1583Glu
XM_006711986.2:c.4752T>A (IFT172)	XP_006712049.1:p.Asp1584Glu
XM_006711987.1:c.4815T>A (IFT172)	XP_006712050.1:p.Asp1605Glu
XM_011532757.1:c.4134T>A (IFT172)	XP_011531059.1:p.Asp1378Glu
XM_011532759.1:c.3255T>A (IFT172)	XP_011531061.1:p.Asp1085Glu
XM_011532760.1:c.2880T>A (IFT172)	XP_011531062.1:p.Asp960Glu
XM_006711986.3:c.4752T>A (IFT172)	XP_006712049.1:p.Asp1584Glu
XM_011532757.2:c.4134T>A (IFT172)	XP_011531059.1:p.Asp1378Glu
XM_011532759.2:c.3255T>A (IFT172)	XP_011531061.1:p.Asp1085Glu
XM_011532760.2:c.2880T>A (IFT172)	XP_011531062.1:p.Asp960Glu
XM_017003790.1:c.4686T>A (IFT172)	XP_016859279.1:p.Asp1562Glu
XM_017003791.1:c.4134T>A (IFT172)	XP_016859280.1:p.Asp1378Glu
XM_017003793.1:c.2952T>A (IFT172)	XP_016859282.1:p.Asp984Glu
XM_017003794.1:c.2952T>A (IFT172)	XP_016859283.1:p.Asp984Glu
XM_017003795.1:c.2748T>A (IFT172)	XP_016859284.1:p.Asp916Glu
NM_015662.3:c.4815T>A (IFT172) MANE Select	NP_056477.1:p.Asp1605Glu
NM_001168364.2:c.*6-372A>T (KRTCAP3)	NP_001161836.1:n.*6-372A>T