Canonical Allele Identifier: CA342624853

Gene: IL6R

Linked Data

• gnomAD v4: 1-154454521-T-C
• MyVariant Identifiers: chr1:g.154426997T>C (hg19) ; chr1:g.154454521T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154454521T>C , CM000663.2:g.154454521T>C	GRCh38
NC_000001.10:g.154426997T>C , CM000663.1:g.154426997T>C	GRCh37
NC_000001.9:g.152693621T>C	NCBI36
NG_012087.1:g.54329T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1100T>C MANE Select	ENSP00000357470.3:p.Phe367Ser
ENST00000344086.8:c.1066+4541T>C	ENSP00000340589.4:n.1066+4541T>C
ENST00000368485.7:c.1100T>C	ENSP00000357470.3:p.Phe367Ser
ENST00000502679.1:n.413T>C
ENST00000507256.1:n.298T>C
ENST00000515190.1:c.508T>C
NM_000565.3:c.1100T>C	NP_000556.1:p.Phe367Ser
NM_181359.2:c.1066+4541T>C	NP_852004.1:n.1066+4541T>C
XM_005245139.1:c.924+4541T>C	XP_005245196.1:n.924+4541T>C
XM_005245140.1:c.958T>C	XP_005245197.1:p.Ser320Pro
XM_006711298.1:c.1148T>C	XP_006711361.1:p.Phe383Ser
XM_006711299.2:c.1114+4541T>C	XP_006711362.1:n.1114+4541T>C
XM_005245139.2:c.924+4541T>C	XP_005245196.1:n.924+4541T>C
XM_005245140.3:c.958T>C	XP_005245197.1:p.Ser320Pro
XM_006711298.2:c.1148T>C	XP_006711361.1:p.Phe383Ser
XM_006711299.4:c.1114+4541T>C	XP_006711362.1:n.1114+4541T>C
XM_017001199.2:c.1247T>C	XP_016856688.1:p.Phe416Ser
XM_017001200.2:c.1199T>C	XP_016856689.1:p.Phe400Ser
XM_017001201.2:c.1057T>C	XP_016856690.1:p.Ser353Pro
NM_000565.4:c.1100T>C MANE Select	NP_000556.1:p.Phe367Ser
NM_181359.3:c.1066+4541T>C	NP_852004.1:n.1066+4541T>C
NM_001382769.1:c.1199T>C	NP_001369698.1:p.Phe400Ser
NM_001382770.1:c.1193T>C	NP_001369699.1:p.Phe398Ser
NM_001382771.1:c.1148T>C	NP_001369700.1:p.Phe383Ser
NM_001382772.1:c.1094T>C	NP_001369701.1:p.Phe365Ser
NM_001382773.1:c.1114+4541T>C	NP_001369702.1:n.1114+4541T>C
NM_001382774.1:c.740T>C	NP_001369703.1:p.Phe247Ser