Canonical Allele Identifier: CA44513514

Gene: IFT172

Linked Data

• ClinVar Variation Id: 1155691
• ClinVar RCV Id: RCV001498118
• dbSNP Id: rs920680020
• gnomAD v2: 2-27700192-G-A
• gnomAD v3: 2-27477325-G-A
• gnomAD v4: 2-27477325-G-A
• MyVariant Identifiers: chr2:g.27700192G>A (hg19) ; chr2:g.27477325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27477325G>A , CM000664.2:g.27477325G>A	GRCh38
NC_000002.11:g.27700192G>A , CM000664.1:g.27700192G>A	GRCh37
NC_000002.10:g.27553696G>A	NCBI36
NG_034068.1:g.17487C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260570.8:c.1222-5C>T MANE Select	ENSP00000260570.3:n.1222-5C>T
ENST00000476264.7:n.1511-5C>T
ENST00000674701.1:c.1222-5C>T	ENSP00000502275.1:n.1222-5C>T
ENST00000674824.1:c.1159-5C>T	ENSP00000501824.1:n.1159-5C>T
ENST00000674932.1:c.*885-5C>T	ENSP00000501967.1:n.*885-5C>T
ENST00000675410.1:c.541-5C>T	ENSP00000502030.1:n.541-5C>T
ENST00000675618.1:n.1302-5C>T
ENST00000675690.1:c.1222-5C>T	ENSP00000502283.1:n.1222-5C>T
ENST00000675728.1:c.1159-5C>T	ENSP00000501700.1:n.1159-5C>T
ENST00000675729.1:c.1222-5C>T	ENSP00000502319.1:n.1222-5C>T
ENST00000675963.1:c.*920-5C>T	ENSP00000502708.1:n.*920-5C>T
ENST00000676119.1:c.*512-5C>T	ENSP00000501701.1:n.*512-5C>T
ENST00000676300.1:n.1541C>T
ENST00000260570.7:c.1222-5C>T	ENSP00000260570.3:n.1222-5C>T
ENST00000359466.10:c.1222-5C>T	ENSP00000352443.6:n.1222-5C>T
ENST00000416524.2:c.1159-5C>T	ENSP00000407408.2:n.1159-5C>T
ENST00000476264.6:n.1168-5C>T
ENST00000507184.5:n.1354-5C>T
ENST00000511842.5:n.1247-5C>T
NM_015662.2:c.1222-5C>T	NP_056477.1:n.1222-5C>T
XM_005264254.1:c.1222-5C>T	XP_005264311.1:n.1222-5C>T
XM_006711986.2:c.1159-5C>T	XP_006712049.1:n.1159-5C>T
XM_006711987.1:c.1222-5C>T	XP_006712050.1:n.1222-5C>T
XM_011532757.1:c.541-5C>T	XP_011531059.1:n.541-5C>T
XM_011532758.1:c.1222-5C>T	XP_011531060.1:n.1222-5C>T
XM_006711986.3:c.1159-5C>T	XP_006712049.1:n.1159-5C>T
XM_011532757.2:c.541-5C>T	XP_011531059.1:n.541-5C>T
XM_017003790.1:c.1159-5C>T	XP_016859279.1:n.1159-5C>T
XM_017003791.1:c.541-5C>T	XP_016859280.1:n.541-5C>T
XM_017003792.1:c.1222-5C>T	XP_016859281.1:n.1222-5C>T
XM_017003793.1:c.-229-5C>T	XP_016859282.1:n.-229-5C>T
XM_017003794.1:c.-229-5C>T	XP_016859283.1:n.-229-5C>T
XM_017003795.1:c.-601-5C>T	XP_016859284.1:n.-601-5C>T
XR_001738698.1:n.1277-5C>T
NM_015662.3:c.1222-5C>T MANE Select	NP_056477.1:n.1222-5C>T