Canonical Allele Identifier: CA2667209298

Gene: IQCB1

Linked Data

• gnomAD v4: 3-121772517-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121772517G>A , CM000665.2:g.121772517G>A	GRCh38
NC_000003.11:g.121491364G>A , CM000665.1:g.121491364G>A	GRCh37
NC_000003.10:g.122974054G>A	NCBI36
NG_015887.1:g.67563C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310864.11:c.1567+40C>T MANE Select	ENSP00000311505.6:n.1567+40C>T
ENST00000310864.10:c.1567+40C>T	ENSP00000311505.6:n.1567+40C>T
ENST00000349820.10:c.1168+40C>T	ENSP00000323756.7:n.1168+40C>T
ENST00000393650.7:c.*545+40C>T	ENSP00000377261.3:n.*545+40C>T
NM_001023570.2:c.1567+40C>T	NP_001018864.2:n.1567+40C>T
NM_001023571.2:c.1168+40C>T	NP_001018865.2:n.1168+40C>T
XM_005247911.2:c.1411-1943C>T	XP_005247968.1:n.1411-1943C>T
XM_005247912.1:c.1015+40C>T	XP_005247969.1:n.1015+40C>T
XM_011513335.1:c.1015+40C>T	XP_011511637.1:n.1015+40C>T
XR_924221.1:n.1584+40C>T
NM_001023570.3:c.1567+40C>T	NP_001018864.2:n.1567+40C>T
NM_001023571.3:c.1168+40C>T	NP_001018865.2:n.1168+40C>T
NM_001319107.1:c.1567+40C>T	NP_001306036.1:n.1567+40C>T
NR_134968.1:n.1671+40C>T
XM_005247911.4:c.1411-1943C>T	XP_005247968.1:n.1411-1943C>T
XM_005247912.3:c.1015+40C>T	XP_005247969.1:n.1015+40C>T
XM_011513335.3:c.1015+40C>T	XP_011511637.1:n.1015+40C>T
XM_017007537.2:c.1015+40C>T	XP_016863026.1:n.1015+40C>T
XM_017007539.2:c.1012-1943C>T	XP_016863028.1:n.1012-1943C>T
XM_024453833.1:c.1015+40C>T	XP_024309601.1:n.1015+40C>T
XM_024453834.1:c.1015+40C>T	XP_024309602.1:n.1015+40C>T
XR_001740376.2:n.1546+40C>T
XR_001740377.2:n.1390-1943C>T
XR_001740378.2:n.1585+40C>T
XR_001740379.2:n.1436+40C>T
XR_001740380.2:n.1429-1943C>T
XR_001740381.2:n.1280-1943C>T
NM_001023570.4:c.1567+40C>T MANE Select	NP_001018864.2:n.1567+40C>T
NM_001023571.4:c.1168+40C>T	NP_001018865.2:n.1168+40C>T
NM_001319107.2:c.1567+40C>T	NP_001306036.1:n.1567+40C>T
NR_134968.2:n.1652+40C>T