Canonical Allele Identifier: CA342628309

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437628G>C (hg19) ; chr1:g.154465152G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465152G>C , CM000663.2:g.154465152G>C	GRCh38
NC_000001.10:g.154437628G>C , CM000663.1:g.154437628G>C	GRCh37
NC_000001.9:g.152704252G>C	NCBI36
NG_012087.1:g.64960G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1179G>C MANE Select	ENSP00000357470.3:p.Lys393Asn
ENST00000344086.8:c.1085G>C	ENSP00000340589.4:p.Ser362Thr
ENST00000368485.7:c.1179G>C	ENSP00000357470.3:p.Lys393Asn
ENST00000502679.1:n.492G>C
ENST00000507256.1:n.377G>C
NM_000565.3:c.1179G>C	NP_000556.1:p.Lys393Asn
NM_181359.2:c.1085G>C	NP_852004.1:p.Ser362Thr
XM_005245139.1:c.943G>C	XP_005245196.1:p.Ala315Pro
XM_005245140.1:c.*20G>C	XP_005245197.1:n.*20G>C
XM_006711298.1:c.1227G>C	XP_006711361.1:p.Lys409Asn
XM_006711299.2:c.1133G>C	XP_006711362.1:p.Ser378Thr
XM_005245139.2:c.943G>C	XP_005245196.1:p.Ala315Pro
XM_005245140.3:c.*20G>C	XP_005245197.1:n.*20G>C
XM_006711298.2:c.1227G>C	XP_006711361.1:p.Lys409Asn
XM_006711299.4:c.1133G>C	XP_006711362.1:p.Ser378Thr
XM_017001199.2:c.1326G>C	XP_016856688.1:p.Lys442Asn
XM_017001200.2:c.1278G>C	XP_016856689.1:p.Lys426Asn
XM_017001201.2:c.*20G>C	XP_016856690.1:n.*20G>C
NM_000565.4:c.1179G>C MANE Select	NP_000556.1:p.Lys393Asn
NM_181359.3:c.1085G>C	NP_852004.1:p.Ser362Thr
NM_001382769.1:c.1278G>C	NP_001369698.1:p.Lys426Asn
NM_001382770.1:c.1272G>C	NP_001369699.1:p.Lys424Asn
NM_001382771.1:c.1227G>C	NP_001369700.1:p.Lys409Asn
NM_001382772.1:c.1173G>C	NP_001369701.1:p.Lys391Asn
NM_001382773.1:c.1133G>C	NP_001369702.1:p.Ser378Thr
NM_001382774.1:c.819G>C	NP_001369703.1:p.Lys273Asn