Canonical Allele Identifier: CA420975913

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437691C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465215C>G , CM000663.2:g.154465215C>G	GRCh38
NC_000001.10:g.154437691C>G , CM000663.1:g.154437691C>G	GRCh37
NC_000001.9:g.152704315C>G	NCBI36
NG_012087.1:g.65023C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1242C>G MANE Select	ENSP00000357470.3:p.Val414=
ENST00000344086.8:c.*50C>G	ENSP00000340589.4:n.*50C>G
ENST00000368485.7:c.1242C>G	ENSP00000357470.3:p.Val414=
ENST00000502679.1:n.555C>G
ENST00000507256.1:n.440C>G
NM_000565.3:c.1242C>G	NP_000556.1:p.Val414=
NM_181359.2:c.*50C>G	NP_852004.1:n.*50C>G
XM_005245139.1:c.1006C>G	XP_005245196.1:p.Pro336Ala
XM_005245140.1:c.*83C>G	XP_005245197.1:n.*83C>G
XM_006711298.1:c.1290C>G	XP_006711361.1:p.Val430=
XM_006711299.2:c.*50C>G	XP_006711362.1:n.*50C>G
XM_005245139.2:c.1006C>G	XP_005245196.1:p.Pro336Ala
XM_005245140.3:c.*83C>G	XP_005245197.1:n.*83C>G
XM_006711298.2:c.1290C>G	XP_006711361.1:p.Val430=
XM_006711299.4:c.*50C>G	XP_006711362.1:n.*50C>G
XM_017001199.2:c.1389C>G	XP_016856688.1:p.Val463=
XM_017001200.2:c.1341C>G	XP_016856689.1:p.Val447=
XM_017001201.2:c.*83C>G	XP_016856690.1:n.*83C>G
NM_000565.4:c.1242C>G MANE Select	NP_000556.1:p.Val414=
NM_181359.3:c.*50C>G	NP_852004.1:n.*50C>G
NM_001382769.1:c.1341C>G	NP_001369698.1:p.Val447=
NM_001382770.1:c.1335C>G	NP_001369699.1:p.Val445=
NM_001382771.1:c.1290C>G	NP_001369700.1:p.Val430=
NM_001382772.1:c.1236C>G	NP_001369701.1:p.Val412=
NM_001382773.1:c.*50C>G	NP_001369702.1:n.*50C>G
NM_001382774.1:c.882C>G	NP_001369703.1:p.Val294=