Canonical Allele Identifier: CA1579363

Gene: IFT172 KRTCAP3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27445108G>A , CM000664.2:g.27445108G>A	GRCh38
NC_000002.11:g.27667975G>A , CM000664.1:g.27667975G>A	GRCh37
NC_000002.10:g.27521479G>A	NCBI36
NG_034068.1:g.49704C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.5069-3C>T (IFT172) MANE Select	NP_056477.1:n.5069-3C>T
ENST00000260570.8:c.5069-3C>T (IFT172) MANE Select	ENSP00000260570.3:n.5069-3C>T
NM_001168364.1:c.*5+1047G>A (KRTCAP3)	NP_001161836.1:n.*5+1047G>A
NM_001168364.2:c.*5+1047G>A (KRTCAP3)	NP_001161836.1:n.*5+1047G>A
NM_015662.2:c.5069-3C>T (IFT172)	NP_056477.1:n.5069-3C>T
ENST00000260570.7:c.5069-3C>T (IFT172)	ENSP00000260570.3:n.5069-3C>T
ENST00000452499.1:c.194+1047G>A (KRTCAP3)	ENSP00000388115.1:n.194+1047G>A
ENST00000494163.1:n.522-3C>T (IFT172)
ENST00000507184.5:n.5350-3C>T (IFT172)
ENST00000509128.5:c.1487-3C>T (IFT172)
ENST00000543753.5:c.*5+1047G>A (KRTCAP3)	ENSP00000442400.1:n.*5+1047G>A
ENST00000674824.1:c.*3517-3C>T (IFT172)	ENSP00000501824.1:n.*3517-3C>T
ENST00000674932.1:c.*5515-3C>T (IFT172)	ENSP00000501967.1:n.*5515-3C>T
ENST00000675410.1:c.*3058-3C>T (IFT172)	ENSP00000502030.1:n.*3058-3C>T
ENST00000675690.1:c.5003-3C>T (IFT172)	ENSP00000502283.1:n.5003-3C>T
ENST00000676119.1:c.*4295-3C>T (IFT172)	ENSP00000501701.1:n.*4295-3C>T
XM_005264254.1:c.5003-3C>T (IFT172)	XP_005264311.1:n.5003-3C>T
XM_006711986.2:c.5006-3C>T (IFT172)	XP_006712049.1:n.5006-3C>T
XM_006711986.3:c.5006-3C>T (IFT172)	XP_006712049.1:n.5006-3C>T
XM_006711987.1:c.4970-3C>T (IFT172)	XP_006712050.1:n.4970-3C>T
XM_011532757.1:c.4388-3C>T (IFT172)	XP_011531059.1:n.4388-3C>T
XM_011532757.2:c.4388-3C>T (IFT172)	XP_011531059.1:n.4388-3C>T
XM_011532759.1:c.3509-3C>T (IFT172)	XP_011531061.1:n.3509-3C>T
XM_011532759.2:c.3509-3C>T (IFT172)	XP_011531061.1:n.3509-3C>T
XM_011532760.1:c.3134-3C>T (IFT172)	XP_011531062.1:n.3134-3C>T
XM_011532760.2:c.3134-3C>T (IFT172)	XP_011531062.1:n.3134-3C>T
XM_017003790.1:c.4940-3C>T (IFT172)	XP_016859279.1:n.4940-3C>T
XM_017003791.1:c.4388-3C>T (IFT172)	XP_016859280.1:n.4388-3C>T
XM_017003793.1:c.3206-3C>T (IFT172)	XP_016859282.1:n.3206-3C>T
XM_017003794.1:c.3206-3C>T (IFT172)	XP_016859283.1:n.3206-3C>T
XM_017003795.1:c.3002-3C>T (IFT172)	XP_016859284.1:n.3002-3C>T