Canonical Allele Identifier: CA1579433

Gene: IFT172 KRTCAP3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27445751A>C , CM000664.2:g.27445751A>C	GRCh38
NC_000002.11:g.27668618A>C , CM000664.1:g.27668618A>C	GRCh37
NC_000002.10:g.27522122A>C	NCBI36
NG_034068.1:g.49061T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.4908T>G (IFT172) MANE Select	NP_056477.1:p.His1636Gln
ENST00000260570.8:c.4908T>G (IFT172) MANE Select	ENSP00000260570.3:p.His1636Gln
NM_001168364.1:c.*6-550A>C (KRTCAP3)	NP_001161836.1:n.*6-550A>C
NM_001168364.2:c.*6-550A>C (KRTCAP3)	NP_001161836.1:n.*6-550A>C
NM_015662.2:c.4908T>G (IFT172)	NP_056477.1:p.His1636Gln
ENST00000260570.7:c.4908T>G (IFT172)	ENSP00000260570.3:p.His1636Gln
ENST00000420854.1:c.480T>G (IFT172)	ENSP00000398633.1:p.His160Gln
ENST00000452499.1:c.195-550A>C (KRTCAP3)	ENSP00000388115.1:n.195-550A>C
ENST00000479419.1:n.277+178T>G (IFT172)
ENST00000494163.1:n.361T>G (IFT172)
ENST00000507184.5:n.5189T>G (IFT172)
ENST00000509128.5:c.1326T>G (IFT172)
ENST00000543753.5:c.*6-550A>C (KRTCAP3)	ENSP00000442400.1:n.*6-550A>C
ENST00000674594.1:n.1520T>G (IFT172)
ENST00000674701.1:c.*4421T>G (IFT172)	ENSP00000502275.1:n.*4421T>G
ENST00000674824.1:c.*3356T>G (IFT172)	ENSP00000501824.1:n.*3356T>G
ENST00000674932.1:c.*5354T>G (IFT172)	ENSP00000501967.1:n.*5354T>G
ENST00000675410.1:c.*2897T>G (IFT172)	ENSP00000502030.1:n.*2897T>G
ENST00000675690.1:c.4842T>G (IFT172)	ENSP00000502283.1:p.His1614Gln
ENST00000676119.1:c.*4134T>G (IFT172)	ENSP00000501701.1:n.*4134T>G
XM_005264254.1:c.4842T>G (IFT172)	XP_005264311.1:p.His1614Gln
XM_006711986.2:c.4845T>G (IFT172)	XP_006712049.1:p.His1615Gln
XM_006711986.3:c.4845T>G (IFT172)	XP_006712049.1:p.His1615Gln
XM_006711987.1:c.4815+178T>G (IFT172)	XP_006712050.1:n.4815+178T>G
XM_011532757.1:c.4227T>G (IFT172)	XP_011531059.1:p.His1409Gln
XM_011532757.2:c.4227T>G (IFT172)	XP_011531059.1:p.His1409Gln
XM_011532759.1:c.3348T>G (IFT172)	XP_011531061.1:p.His1116Gln
XM_011532759.2:c.3348T>G (IFT172)	XP_011531061.1:p.His1116Gln
XM_011532760.1:c.2973T>G (IFT172)	XP_011531062.1:p.His991Gln
XM_011532760.2:c.2973T>G (IFT172)	XP_011531062.1:p.His991Gln
XM_017003790.1:c.4779T>G (IFT172)	XP_016859279.1:p.His1593Gln
XM_017003791.1:c.4227T>G (IFT172)	XP_016859280.1:p.His1409Gln
XM_017003793.1:c.3045T>G (IFT172)	XP_016859282.1:p.His1015Gln
XM_017003794.1:c.3045T>G (IFT172)	XP_016859283.1:p.His1015Gln
XM_017003795.1:c.2841T>G (IFT172)	XP_016859284.1:p.His947Gln