Canonical Allele Identifier: CA1579959

Gene: IFT172

Linked Data

• ClinVar Variation Id: 385854
• ClinVar RCV Id: RCV000420574 ; RCV000951825 ; RCV001572918
• dbSNP Id: rs150882197
• ExAC: 2:27677214 A / G
• gnomAD v2: 2-27677214-A-G
• gnomAD v3: 2-27454347-A-G
• gnomAD v4: 2-27454347-A-G
• MyVariant Identifiers: chr2:g.27677214A>G (hg19) ; chr2:g.27454347A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27454347A>G , CM000664.2:g.27454347A>G	GRCh38
NC_000002.11:g.27677214A>G , CM000664.1:g.27677214A>G	GRCh37
NC_000002.10:g.27530718A>G	NCBI36
NG_034068.1:g.40465T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.3530+7T>C MANE Select	ENSP00000260570.3:n.3530+7T>C
ENST00000674701.1:c.*2859T>C	ENSP00000502275.1:n.*2859T>C
ENST00000674824.1:c.*1552T>C	ENSP00000501824.1:n.*1552T>C
ENST00000674932.1:c.*3792T>C	ENSP00000501967.1:n.*3792T>C
ENST00000675410.1:c.*1217T>C	ENSP00000502030.1:n.*1217T>C
ENST00000675690.1:c.3464+7T>C	ENSP00000502283.1:n.3464+7T>C
ENST00000676119.1:c.*2820+7T>C	ENSP00000501701.1:n.*2820+7T>C
ENST00000260570.7:c.3530+7T>C	ENSP00000260570.3:n.3530+7T>C
ENST00000443889.1:c.135+7T>C
ENST00000507184.5:n.3811+7T>C
NM_015662.2:c.3530+7T>C	NP_056477.1:n.3530+7T>C
XM_005264254.1:c.3464+7T>C	XP_005264311.1:n.3464+7T>C
XM_006711986.2:c.3467+7T>C	XP_006712049.1:n.3467+7T>C
XM_006711987.1:c.3530+7T>C	XP_006712050.1:n.3530+7T>C
XM_011532757.1:c.2849+7T>C	XP_011531059.1:n.2849+7T>C
XM_011532758.1:c.3530+7T>C	XP_011531060.1:n.3530+7T>C
XM_011532759.1:c.1970+7T>C	XP_011531061.1:n.1970+7T>C
XM_011532760.1:c.1595+7T>C	XP_011531062.1:n.1595+7T>C
XM_006711986.3:c.3467+7T>C	XP_006712049.1:n.3467+7T>C
XM_011532757.2:c.2849+7T>C	XP_011531059.1:n.2849+7T>C
XM_011532759.2:c.1970+7T>C	XP_011531061.1:n.1970+7T>C
XM_011532760.2:c.1595+7T>C	XP_011531062.1:n.1595+7T>C
XM_017003790.1:c.3401+7T>C	XP_016859279.1:n.3401+7T>C
XM_017003791.1:c.2849+7T>C	XP_016859280.1:n.2849+7T>C
XM_017003792.1:c.3530+7T>C	XP_016859281.1:n.3530+7T>C
XM_017003793.1:c.1667+7T>C	XP_016859282.1:n.1667+7T>C
XM_017003794.1:c.1667+7T>C	XP_016859283.1:n.1667+7T>C
XM_017003795.1:c.1463+7T>C	XP_016859284.1:n.1463+7T>C
XR_001738698.1:n.3585+7T>C
NM_015662.3:c.3530+7T>C MANE Select	NP_056477.1:n.3530+7T>C