Canonical Allele Identifier: CA346415456

Gene: IFT172 KRTCAP3

Linked Data

• COSMIC: COSM1019697
• MyVariant Identifiers: chr2:g.27669181G>C (hg19) ; chr2:g.27446314G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27446314G>C , CM000664.2:g.27446314G>C	GRCh38
NC_000002.11:g.27669181G>C , CM000664.1:g.27669181G>C	GRCh37
NC_000002.10:g.27522685G>C	NCBI36
NG_034068.1:g.48498C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.4701C>G (IFT172) MANE Select	ENSP00000260570.3:p.His1567Gln
ENST00000674594.1:n.1313C>G (IFT172)
ENST00000674701.1:c.*4214C>G (IFT172)	ENSP00000502275.1:n.*4214C>G
ENST00000674824.1:c.*3149C>G (IFT172)	ENSP00000501824.1:n.*3149C>G
ENST00000674932.1:c.*5147C>G (IFT172)	ENSP00000501967.1:n.*5147C>G
ENST00000675410.1:c.*2690C>G (IFT172)	ENSP00000502030.1:n.*2690C>G
ENST00000675690.1:c.4635C>G (IFT172)	ENSP00000502283.1:p.His1545Gln
ENST00000676119.1:c.*3927C>G (IFT172)	ENSP00000501701.1:n.*3927C>G
ENST00000260570.7:c.4701C>G (IFT172)	ENSP00000260570.3:p.His1567Gln
ENST00000420854.1:c.273C>G (IFT172)	ENSP00000398633.1:p.His91Gln
ENST00000452499.1:c.208G>C (KRTCAP3)	ENSP00000388115.1:n.208G>C
ENST00000480892.1:n.104C>G (IFT172)
ENST00000507184.5:n.4982C>G (IFT172)
ENST00000509128.5:c.1119C>G (IFT172)
ENST00000543753.5:c.*19G>C (KRTCAP3)	ENSP00000442400.1:n.*19G>C
NM_001168364.1:c.*19G>C (KRTCAP3)	NP_001161836.1:n.*19G>C
NM_015662.2:c.4701C>G (IFT172)	NP_056477.1:p.His1567Gln
XM_005264254.1:c.4635C>G (IFT172)	XP_005264311.1:p.His1545Gln
XM_006711986.2:c.4638C>G (IFT172)	XP_006712049.1:p.His1546Gln
XM_006711987.1:c.4701C>G (IFT172)	XP_006712050.1:p.His1567Gln
XM_011532757.1:c.4020C>G (IFT172)	XP_011531059.1:p.His1340Gln
XM_011532759.1:c.3141C>G (IFT172)	XP_011531061.1:p.His1047Gln
XM_011532760.1:c.2766C>G (IFT172)	XP_011531062.1:p.His922Gln
XM_006711986.3:c.4638C>G (IFT172)	XP_006712049.1:p.His1546Gln
XM_011532757.2:c.4020C>G (IFT172)	XP_011531059.1:p.His1340Gln
XM_011532759.2:c.3141C>G (IFT172)	XP_011531061.1:p.His1047Gln
XM_011532760.2:c.2766C>G (IFT172)	XP_011531062.1:p.His922Gln
XM_017003790.1:c.4572C>G (IFT172)	XP_016859279.1:p.His1524Gln
XM_017003791.1:c.4020C>G (IFT172)	XP_016859280.1:p.His1340Gln
XM_017003793.1:c.2838C>G (IFT172)	XP_016859282.1:p.His946Gln
XM_017003794.1:c.2838C>G (IFT172)	XP_016859283.1:p.His946Gln
XM_017003795.1:c.2634C>G (IFT172)	XP_016859284.1:p.His878Gln
NM_015662.3:c.4701C>G (IFT172) MANE Select	NP_056477.1:p.His1567Gln
NM_001168364.2:c.*19G>C (KRTCAP3)	NP_001161836.1:n.*19G>C