Canonical Allele Identifier: CA342628419

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437656A>T (hg19) ; chr1:g.154465180A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465180A>T , CM000663.2:g.154465180A>T	GRCh38
NC_000001.10:g.154437656A>T , CM000663.1:g.154437656A>T	GRCh37
NC_000001.9:g.152704280A>T	NCBI36
NG_012087.1:g.64988A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1207A>T MANE Select	ENSP00000357470.3:p.Ser403Cys
ENST00000344086.8:c.*15A>T	ENSP00000340589.4:n.*15A>T
ENST00000368485.7:c.1207A>T	ENSP00000357470.3:p.Ser403Cys
ENST00000502679.1:n.520A>T
ENST00000507256.1:n.405A>T
NM_000565.3:c.1207A>T	NP_000556.1:p.Ser403Cys
NM_181359.2:c.*15A>T	NP_852004.1:n.*15A>T
XM_005245139.1:c.971A>T	XP_005245196.1:p.Lys324Met
XM_005245140.1:c.*48A>T	XP_005245197.1:n.*48A>T
XM_006711298.1:c.1255A>T	XP_006711361.1:p.Ser419Cys
XM_006711299.2:c.*15A>T	XP_006711362.1:n.*15A>T
XM_005245139.2:c.971A>T	XP_005245196.1:p.Lys324Met
XM_005245140.3:c.*48A>T	XP_005245197.1:n.*48A>T
XM_006711298.2:c.1255A>T	XP_006711361.1:p.Ser419Cys
XM_006711299.4:c.*15A>T	XP_006711362.1:n.*15A>T
XM_017001199.2:c.1354A>T	XP_016856688.1:p.Ser452Cys
XM_017001200.2:c.1306A>T	XP_016856689.1:p.Ser436Cys
XM_017001201.2:c.*48A>T	XP_016856690.1:n.*48A>T
NM_000565.4:c.1207A>T MANE Select	NP_000556.1:p.Ser403Cys
NM_181359.3:c.*15A>T	NP_852004.1:n.*15A>T
NM_001382769.1:c.1306A>T	NP_001369698.1:p.Ser436Cys
NM_001382770.1:c.1300A>T	NP_001369699.1:p.Ser434Cys
NM_001382771.1:c.1255A>T	NP_001369700.1:p.Ser419Cys
NM_001382772.1:c.1201A>T	NP_001369701.1:p.Ser401Cys
NM_001382773.1:c.*15A>T	NP_001369702.1:n.*15A>T
NM_001382774.1:c.847A>T	NP_001369703.1:p.Ser283Cys