Canonical Allele Identifier: CA1580198

Gene: IFT172

Linked Data

• ClinVar Variation Id: 476044
• ClinVar RCV Id: RCV000624406 ; RCV000542399 ; RCV001573188 ; RCV001336304 ; RCV004553245
• dbSNP Id: rs142409945
• ExAC: 2:27682262 A / C
• gnomAD v2: 2-27682262-A-C
• gnomAD v3: 2-27459395-A-C
• gnomAD v4: 2-27459395-A-C
• MyVariant Identifiers: chr2:g.27682262A>C (hg19) ; chr2:g.27459395A>C (hg38)
• PubMed: PMID:2516386 ; PMID:24140113 ; PMID:25168386 ; PMID:25664603 ; PMID:26763875

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27459395A>C , CM000664.2:g.27459395A>C	GRCh38
NC_000002.11:g.27682262A>C , CM000664.1:g.27682262A>C	GRCh37
NC_000002.10:g.27535766A>C	NCBI36
NG_034068.1:g.35417T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.2770T>G MANE Select	ENSP00000260570.3:p.Ser924Ala
ENST00000674701.1:c.*1943T>G	ENSP00000502275.1:n.*1943T>G
ENST00000674824.1:c.*785T>G	ENSP00000501824.1:n.*785T>G
ENST00000674932.1:c.*2367T>G	ENSP00000501967.1:n.*2367T>G
ENST00000675410.1:c.2089T>G	ENSP00000502030.1:p.Ser697Ala
ENST00000675690.1:c.2704T>G	ENSP00000502283.1:p.Ser902Ala
ENST00000676119.1:c.*2060T>G	ENSP00000501701.1:n.*2060T>G
ENST00000260570.7:c.2770T>G	ENSP00000260570.3:p.Ser924Ala
ENST00000507184.5:n.2902T>G
NM_015662.2:c.2770T>G	NP_056477.1:p.Ser924Ala
XM_005264254.1:c.2704T>G	XP_005264311.1:p.Ser902Ala
XM_006711986.2:c.2707T>G	XP_006712049.1:p.Ser903Ala
XM_006711987.1:c.2770T>G	XP_006712050.1:p.Ser924Ala
XM_011532757.1:c.2089T>G	XP_011531059.1:p.Ser697Ala
XM_011532758.1:c.2770T>G	XP_011531060.1:p.Ser924Ala
XM_011532759.1:c.1210T>G	XP_011531061.1:p.Ser404Ala
XM_011532760.1:c.835T>G	XP_011531062.1:p.Ser279Ala
XM_006711986.3:c.2707T>G	XP_006712049.1:p.Ser903Ala
XM_011532757.2:c.2089T>G	XP_011531059.1:p.Ser697Ala
XM_011532759.2:c.1210T>G	XP_011531061.1:p.Ser404Ala
XM_011532760.2:c.835T>G	XP_011531062.1:p.Ser279Ala
XM_017003790.1:c.2641T>G	XP_016859279.1:p.Ser881Ala
XM_017003791.1:c.2089T>G	XP_016859280.1:p.Ser697Ala
XM_017003792.1:c.2770T>G	XP_016859281.1:p.Ser924Ala
XM_017003793.1:c.907T>G	XP_016859282.1:p.Ser303Ala
XM_017003794.1:c.907T>G	XP_016859283.1:p.Ser303Ala
XM_017003795.1:c.703T>G	XP_016859284.1:p.Ser235Ala
XR_001738698.1:n.2825T>G
NM_015662.3:c.2770T>G MANE Select	NP_056477.1:p.Ser924Ala