Canonical Allele Identifier: CA3271442
Gene: IL6ST HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55954899A>G , CM000667.2:g.55954899A>G GRCh38
NC_000005.9:g.55250727A>G , CM000667.1:g.55250727A>G GRCh37
NC_000005.8:g.55286484A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000381294.8:c.1267+1126T>C ENSP00000370694.3:n.1267+1126T>C
ENST00000506241.2:n.2702T>C
ENST00000577363.2:c.*766T>C ENSP00000513861.1:n.*766T>C
ENST00000698638.1:c.458T>C ENSP00000513851.1:p.Ile153Thr
ENST00000698639.1:c.1361T>C ENSP00000513852.1:p.Ile454Thr
ENST00000698640.1:c.733+1126T>C ENSP00000513853.1:n.733+1126T>C
ENST00000698641.1:c.*672+1126T>C ENSP00000513854.1:n.*672+1126T>C
ENST00000698642.1:c.*812T>C ENSP00000513855.1:n.*812T>C
ENST00000698643.1:c.*683T>C ENSP00000513856.1:n.*683T>C
ENST00000698644.1:c.1151T>C ENSP00000513857.1:p.Ile384Thr
ENST00000698645.1:c.1361T>C ENSP00000513858.1:p.Ile454Thr
ENST00000698646.1:c.1361T>C ENSP00000513859.1:p.Ile454Thr
ENST00000698647.1:c.*980T>C ENSP00000513860.1:n.*980T>C
ENST00000698648.1:c.*766T>C ENSP00000513862.1:n.*766T>C
ENST00000381298.7:c.1361T>C MANE Select ENSP00000370698.2:p.Ile454Thr
ENST00000651614.1:c.1361T>C ENSP00000498224.1:p.Ile454Thr
ENST00000336909.9:c.1361T>C ENSP00000338799.5:p.Ile454Thr
ENST00000381286.7:c.65-12148T>C ENSP00000370686.3:n.65-12148T>C
ENST00000381287.8:c.*288T>C ENSP00000370687.4:n.*288T>C
ENST00000381293.6:c.475+5503T>C ENSP00000370693.2:n.475+5503T>C
ENST00000381294.7:c.1267+1126T>C ENSP00000370694.3:n.1267+1126T>C
ENST00000381298.6:c.1361T>C ENSP00000370698.2:p.Ile454Thr
ENST00000502326.7:c.1361T>C ENSP00000462158.1:p.Ile454Thr
ENST00000503773.6:c.*405T>C ENSP00000426224.2:n.*405T>C
ENST00000522633.2:c.*288T>C ENSP00000435399.1:n.*288T>C
NM_001190981.1:c.1267+1126T>C NP_001177910.1:n.1267+1126T>C
NM_002184.3:c.1361T>C NP_002175.2:p.Ile454Thr
NM_175767.2:c.*288T>C NP_786943.1:n.*288T>C
NR_120480.1:n.1720T>C
XM_011543376.1:c.1361T>C XP_011541678.1:p.Ile454Thr
NM_001364275.1:c.1361T>C NP_001351204.1:p.Ile454Thr
NM_001364276.1:c.1151T>C NP_001351205.1:p.Ile384Thr
NM_001364277.1:c.494T>C NP_001351206.1:p.Ile165Thr
NM_001364278.1:c.458T>C NP_001351207.1:p.Ile153Thr
NM_001364279.1:c.365T>C NP_001351208.1:p.Ile122Thr
NR_157112.1:n.1644T>C
NM_002184.4:c.1361T>C MANE Select NP_002175.2:p.Ile454Thr
NM_001190981.2:c.1267+1126T>C NP_001177910.1:n.1267+1126T>C
NM_001364275.2:c.1361T>C NP_001351204.1:p.Ile454Thr
NM_001364276.2:c.1151T>C NP_001351205.1:p.Ile384Thr
NM_001364277.2:c.494T>C NP_001351206.1:p.Ile165Thr
NM_001364278.2:c.458T>C NP_001351207.1:p.Ile153Thr
NM_001364279.2:c.365T>C NP_001351208.1:p.Ile122Thr
NM_175767.3:c.*288T>C NP_786943.1:n.*288T>C
NR_120480.2:n.1690T>C
NR_157112.2:n.1644T>C