Canonical Allele Identifier: CA425412406

Gene: IFT172 KRTCAP3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27445414A>C , CM000664.2:g.27445414A>C	GRCh38
NC_000002.11:g.27668281A>C , CM000664.1:g.27668281A>C	GRCh37
NC_000002.10:g.27521785A>C	NCBI36
NG_034068.1:g.49398T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.4950T>G (IFT172) MANE Select	NP_056477.1:p.Leu1650=
ENST00000260570.8:c.4950T>G (IFT172) MANE Select	ENSP00000260570.3:p.Leu1650=
NM_001168364.1:c.*6-887A>C (KRTCAP3)	NP_001161836.1:n.*6-887A>C
NM_001168364.2:c.*6-887A>C (KRTCAP3)	NP_001161836.1:n.*6-887A>C
NM_015662.2:c.4950T>G (IFT172)	NP_056477.1:p.Leu1650=
ENST00000260570.7:c.4950T>G (IFT172)	ENSP00000260570.3:p.Leu1650=
ENST00000452499.1:c.195-887A>C (KRTCAP3)	ENSP00000388115.1:n.195-887A>C
ENST00000479419.1:n.313T>G (IFT172)
ENST00000494163.1:n.403T>G (IFT172)
ENST00000507184.5:n.5231T>G (IFT172)
ENST00000509128.5:c.1368T>G (IFT172)
ENST00000543753.5:c.*6-887A>C (KRTCAP3)	ENSP00000442400.1:n.*6-887A>C
ENST00000674594.1:n.1562T>G (IFT172)
ENST00000674701.1:c.*4463T>G (IFT172)	ENSP00000502275.1:n.*4463T>G
ENST00000674824.1:c.*3398T>G (IFT172)	ENSP00000501824.1:n.*3398T>G
ENST00000674932.1:c.*5396T>G (IFT172)	ENSP00000501967.1:n.*5396T>G
ENST00000675410.1:c.*2939T>G (IFT172)	ENSP00000502030.1:n.*2939T>G
ENST00000675690.1:c.4884T>G (IFT172)	ENSP00000502283.1:p.Leu1628=
ENST00000676119.1:c.*4176T>G (IFT172)	ENSP00000501701.1:n.*4176T>G
XM_005264254.1:c.4884T>G (IFT172)	XP_005264311.1:p.Leu1628=
XM_006711986.2:c.4887T>G (IFT172)	XP_006712049.1:p.Leu1629=
XM_006711986.3:c.4887T>G (IFT172)	XP_006712049.1:p.Leu1629=
XM_006711987.1:c.4851T>G (IFT172)	XP_006712050.1:p.Leu1617=
XM_011532757.1:c.4269T>G (IFT172)	XP_011531059.1:p.Leu1423=
XM_011532757.2:c.4269T>G (IFT172)	XP_011531059.1:p.Leu1423=
XM_011532759.1:c.3390T>G (IFT172)	XP_011531061.1:p.Leu1130=
XM_011532759.2:c.3390T>G (IFT172)	XP_011531061.1:p.Leu1130=
XM_011532760.1:c.3015T>G (IFT172)	XP_011531062.1:p.Leu1005=
XM_011532760.2:c.3015T>G (IFT172)	XP_011531062.1:p.Leu1005=
XM_017003790.1:c.4821T>G (IFT172)	XP_016859279.1:p.Leu1607=
XM_017003791.1:c.4269T>G (IFT172)	XP_016859280.1:p.Leu1423=
XM_017003793.1:c.3087T>G (IFT172)	XP_016859282.1:p.Leu1029=
XM_017003794.1:c.3087T>G (IFT172)	XP_016859283.1:p.Leu1029=
XM_017003795.1:c.2883T>G (IFT172)	XP_016859284.1:p.Leu961=