Canonical Allele Identifier: CA203031

Gene: IQCB1

Linked Data

• ClinVar Variation Id: 167198
• ClinVar RCV Id: RCV000178818 ; RCV002514955
• dbSNP Id: rs727503969
• MyVariant Identifiers: chr3:g.121545029T>A (hg19) ; chr3:g.121826182T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121826182T>A , CM000665.2:g.121826182T>A	GRCh38
NC_000003.11:g.121545029T>A , CM000665.1:g.121545029T>A	GRCh37
NC_000003.10:g.123027719T>A	NCBI36
NG_015887.1:g.13898A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310864.11:c.264-2A>T MANE Select	ENSP00000311505.6:n.264-2A>T
ENST00000310864.10:c.264-2A>T	ENSP00000311505.6:n.264-2A>T
ENST00000349820.10:c.264-2A>T	ENSP00000323756.7:n.264-2A>T
ENST00000393650.7:c.264-2A>T	ENSP00000377261.3:n.264-2A>T
ENST00000460108.5:c.-289-2A>T	ENSP00000419168.1:n.-289-2A>T
ENST00000498104.1:c.-195-2A>T	ENSP00000417832.1:n.-195-2A>T
NM_001023570.2:c.264-2A>T	NP_001018864.2:n.264-2A>T
NM_001023571.2:c.264-2A>T	NP_001018865.2:n.264-2A>T
XM_005247911.2:c.264-2A>T	XP_005247968.1:n.264-2A>T
XM_005247912.1:c.-289-2A>T	XP_005247969.1:n.-289-2A>T
XM_005247913.1:c.264-2A>T	XP_005247970.1:n.264-2A>T
XM_011513335.1:c.-195-2A>T	XP_011511637.1:n.-195-2A>T
XR_924221.1:n.391-2A>T
NM_001023570.3:c.264-2A>T	NP_001018864.2:n.264-2A>T
NM_001023571.3:c.264-2A>T	NP_001018865.2:n.264-2A>T
NM_001319107.1:c.264-2A>T	NP_001306036.1:n.264-2A>T
NR_134968.1:n.478-2A>T
XM_005247911.4:c.264-2A>T	XP_005247968.1:n.264-2A>T
XM_005247912.3:c.-289-2A>T	XP_005247969.1:n.-289-2A>T
XM_011513335.3:c.-195-2A>T	XP_011511637.1:n.-195-2A>T
XM_017007537.2:c.-195-2A>T	XP_016863026.1:n.-195-2A>T
XM_017007539.2:c.264-2A>T	XP_016863028.1:n.264-2A>T
XM_024453833.1:c.-643-2A>T	XP_024309601.1:n.-643-2A>T
XM_024453834.1:c.-643-2A>T	XP_024309602.1:n.-643-2A>T
XR_001740376.2:n.392-2A>T
XR_001740377.2:n.392-2A>T
XR_001740378.2:n.392-2A>T
XR_001740379.2:n.392-2A>T
XR_001740380.2:n.392-2A>T
XR_001740381.2:n.392-2A>T
NM_001023570.4:c.264-2A>T MANE Select	NP_001018864.2:n.264-2A>T
NM_001023571.4:c.264-2A>T	NP_001018865.2:n.264-2A>T
NM_001319107.2:c.264-2A>T	NP_001306036.1:n.264-2A>T
NR_134968.2:n.459-2A>T