Canonical Allele Identifier: CA124179

Gene: IL6R

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154454494A>C , CM000663.2:g.154454494A>C	GRCh38
NC_000001.10:g.154426970A>C , CM000663.1:g.154426970A>C	GRCh37
NC_000001.9:g.152693594A>C	NCBI36
NG_012087.1:g.54302A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1073A>C MANE Select	ENSP00000357470.3:p.Asp358Ala
ENST00000344086.8:c.1066+4514A>C	ENSP00000340589.4:n.1066+4514A>C
ENST00000368485.7:c.1073A>C	ENSP00000357470.3:p.Asp358Ala
ENST00000502679.1:n.386A>C
ENST00000507256.1:n.271A>C
ENST00000515190.1:c.481A>C
NM_000565.3:c.1073A>C	NP_000556.1:p.Asp358Ala
NM_181359.2:c.1066+4514A>C	NP_852004.1:n.1066+4514A>C
XM_005245139.1:c.924+4514A>C	XP_005245196.1:n.924+4514A>C
XM_005245140.1:c.931A>C	XP_005245197.1:p.Ile311Leu
XM_006711298.1:c.1121A>C	XP_006711361.1:p.Asp374Ala
XM_006711299.2:c.1114+4514A>C	XP_006711362.1:n.1114+4514A>C
XM_005245139.2:c.924+4514A>C	XP_005245196.1:n.924+4514A>C
XM_005245140.3:c.931A>C	XP_005245197.1:p.Ile311Leu
XM_006711298.2:c.1121A>C	XP_006711361.1:p.Asp374Ala
XM_006711299.4:c.1114+4514A>C	XP_006711362.1:n.1114+4514A>C
XM_017001199.2:c.1220A>C	XP_016856688.1:p.Asp407Ala
XM_017001200.2:c.1172A>C	XP_016856689.1:p.Asp391Ala
XM_017001201.2:c.1030A>C	XP_016856690.1:p.Ile344Leu
NM_000565.4:c.1073A>C MANE Select	NP_000556.1:p.Asp358Ala
NM_181359.3:c.1066+4514A>C	NP_852004.1:n.1066+4514A>C
NM_001382769.1:c.1172A>C	NP_001369698.1:p.Asp391Ala
NM_001382770.1:c.1166A>C	NP_001369699.1:p.Asp389Ala
NM_001382771.1:c.1121A>C	NP_001369700.1:p.Asp374Ala
NM_001382772.1:c.1067A>C	NP_001369701.1:p.Asp356Ala
NM_001382773.1:c.1114+4514A>C	NP_001369702.1:n.1114+4514A>C
NM_001382774.1:c.713A>C	NP_001369703.1:p.Asp238Ala