Canonical Allele Identifier: CA10615043
Gene: IQCB1 HGNC NCBI
MyVariant.info:
Revel Score:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121799240T>C , CM000665.2:g.121799240T>C GRCh38
NC_000003.11:g.121518087T>C , CM000665.1:g.121518087T>C GRCh37
NC_000003.10:g.123000777T>C NCBI36
NG_015887.1:g.40840A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310864.11:c.722A>G MANE Select ENSP00000311505.6:p.His241Arg
ENST00000310864.10:c.722A>G ENSP00000311505.6:p.His241Arg
ENST00000349820.10:c.587+8104A>G ENSP00000323756.7:n.587+8104A>G
ENST00000393650.7:c.722A>G ENSP00000377261.3:p.His241Arg
ENST00000460108.5:c.170A>G ENSP00000419168.1:p.His57Arg
ENST00000498104.1:c.170A>G ENSP00000417832.1:p.His57Arg
NM_001023570.2:c.722A>G NP_001018864.2:p.His241Arg
NM_001023571.2:c.587+8104A>G NP_001018865.2:n.587+8104A>G
XM_005247911.2:c.722A>G XP_005247968.1:p.His241Arg
XM_005247912.1:c.170A>G XP_005247969.1:p.His57Arg
XM_005247913.1:c.722A>G XP_005247970.1:p.His241Arg
XM_011513335.1:c.170A>G XP_011511637.1:p.His57Arg
XR_924221.1:n.849A>G
NM_001023570.3:c.722A>G NP_001018864.2:p.His241Arg
NM_001023571.3:c.587+8104A>G NP_001018865.2:n.587+8104A>G
NM_001319107.1:c.722A>G NP_001306036.1:p.His241Arg
NR_134968.1:n.936A>G
XM_005247911.4:c.722A>G XP_005247968.1:p.His241Arg
XM_005247912.3:c.170A>G XP_005247969.1:p.His57Arg
XM_011513335.3:c.170A>G XP_011511637.1:p.His57Arg
XM_017007537.2:c.170A>G XP_016863026.1:p.His57Arg
XM_017007539.2:c.587+8104A>G XP_016863028.1:n.587+8104A>G
XM_024453833.1:c.170A>G XP_024309601.1:p.His57Arg
XM_024453834.1:c.170A>G XP_024309602.1:p.His57Arg
XR_001740376.2:n.850A>G
XR_001740377.2:n.850A>G
XR_001740378.2:n.850A>G
XR_001740379.2:n.850A>G
XR_001740380.2:n.850A>G
XR_001740381.2:n.850A>G
NM_001023570.4:c.722A>G MANE Select NP_001018864.2:p.His241Arg
NM_001023571.4:c.587+8104A>G NP_001018865.2:n.587+8104A>G
NM_001319107.2:c.722A>G NP_001306036.1:p.His241Arg
NR_134968.2:n.917A>G