Canonical Allele Identifier: CA2567062

Gene: IQCB1

Linked Data

• dbSNP Id: rs778270122
• ExAC: 3:121491360 A / G
• gnomAD v3: 3-121772513-A-G
• gnomAD v4: 3-121772513-A-G
• MyVariant Identifiers: chr3:g.121491360A>G (hg19) ; chr3:g.121772513A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121772513A>G , CM000665.2:g.121772513A>G	GRCh38
NC_000003.11:g.121491360A>G , CM000665.1:g.121491360A>G	GRCh37
NC_000003.10:g.122974050A>G	NCBI36
NG_015887.1:g.67567T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310864.11:c.1567+44T>C MANE Select	ENSP00000311505.6:n.1567+44T>C
ENST00000310864.10:c.1567+44T>C	ENSP00000311505.6:n.1567+44T>C
ENST00000349820.10:c.1168+44T>C	ENSP00000323756.7:n.1168+44T>C
ENST00000393650.7:c.*545+44T>C	ENSP00000377261.3:n.*545+44T>C
NM_001023570.2:c.1567+44T>C	NP_001018864.2:n.1567+44T>C
NM_001023571.2:c.1168+44T>C	NP_001018865.2:n.1168+44T>C
XM_005247911.2:c.1411-1939T>C	XP_005247968.1:n.1411-1939T>C
XM_005247912.1:c.1015+44T>C	XP_005247969.1:n.1015+44T>C
XM_011513335.1:c.1015+44T>C	XP_011511637.1:n.1015+44T>C
XR_924221.1:n.1584+44T>C
NM_001023570.3:c.1567+44T>C	NP_001018864.2:n.1567+44T>C
NM_001023571.3:c.1168+44T>C	NP_001018865.2:n.1168+44T>C
NM_001319107.1:c.1567+44T>C	NP_001306036.1:n.1567+44T>C
NR_134968.1:n.1671+44T>C
XM_005247911.4:c.1411-1939T>C	XP_005247968.1:n.1411-1939T>C
XM_005247912.3:c.1015+44T>C	XP_005247969.1:n.1015+44T>C
XM_011513335.3:c.1015+44T>C	XP_011511637.1:n.1015+44T>C
XM_017007537.2:c.1015+44T>C	XP_016863026.1:n.1015+44T>C
XM_017007539.2:c.1012-1939T>C	XP_016863028.1:n.1012-1939T>C
XM_024453833.1:c.1015+44T>C	XP_024309601.1:n.1015+44T>C
XM_024453834.1:c.1015+44T>C	XP_024309602.1:n.1015+44T>C
XR_001740376.2:n.1546+44T>C
XR_001740377.2:n.1390-1939T>C
XR_001740378.2:n.1585+44T>C
XR_001740379.2:n.1436+44T>C
XR_001740380.2:n.1429-1939T>C
XR_001740381.2:n.1280-1939T>C
NM_001023570.4:c.1567+44T>C MANE Select	NP_001018864.2:n.1567+44T>C
NM_001023571.4:c.1168+44T>C	NP_001018865.2:n.1168+44T>C
NM_001319107.2:c.1567+44T>C	NP_001306036.1:n.1567+44T>C
NR_134968.2:n.1652+44T>C