Canonical Allele Identifier: CA342628528

Gene: IL6R

Linked Data

• dbSNP Id: rs1432214451
• gnomAD v2: 1-154437708-C-T
• gnomAD v4: 1-154465232-C-T
• MyVariant Identifiers: chr1:g.154437708C>T (hg19) ; chr1:g.154465232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465232C>T , CM000663.2:g.154465232C>T	GRCh38
NC_000001.10:g.154437708C>T , CM000663.1:g.154437708C>T	GRCh37
NC_000001.9:g.152704332C>T	NCBI36
NG_012087.1:g.65040C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1259C>T MANE Select	ENSP00000357470.3:p.Pro420Leu
ENST00000344086.8:c.*67C>T	ENSP00000340589.4:n.*67C>T
ENST00000368485.7:c.1259C>T	ENSP00000357470.3:p.Pro420Leu
ENST00000502679.1:n.572C>T
ENST00000507256.1:n.457C>T
NM_000565.3:c.1259C>T	NP_000556.1:p.Pro420Leu
NM_181359.2:c.*67C>T	NP_852004.1:n.*67C>T
XM_005245139.1:c.1023C>T	XP_005245196.1:p.Thr341=
XM_005245140.1:c.*100C>T	XP_005245197.1:n.*100C>T
XM_006711298.1:c.1307C>T	XP_006711361.1:p.Pro436Leu
XM_006711299.2:c.*67C>T	XP_006711362.1:n.*67C>T
XM_005245139.2:c.1023C>T	XP_005245196.1:p.Thr341=
XM_005245140.3:c.*100C>T	XP_005245197.1:n.*100C>T
XM_006711298.2:c.1307C>T	XP_006711361.1:p.Pro436Leu
XM_006711299.4:c.*67C>T	XP_006711362.1:n.*67C>T
XM_017001199.2:c.1406C>T	XP_016856688.1:p.Pro469Leu
XM_017001200.2:c.1358C>T	XP_016856689.1:p.Pro453Leu
XM_017001201.2:c.*100C>T	XP_016856690.1:n.*100C>T
NM_000565.4:c.1259C>T MANE Select	NP_000556.1:p.Pro420Leu
NM_181359.3:c.*67C>T	NP_852004.1:n.*67C>T
NM_001382769.1:c.1358C>T	NP_001369698.1:p.Pro453Leu
NM_001382770.1:c.1352C>T	NP_001369699.1:p.Pro451Leu
NM_001382771.1:c.1307C>T	NP_001369700.1:p.Pro436Leu
NM_001382772.1:c.1253C>T	NP_001369701.1:p.Pro418Leu
NM_001382773.1:c.*67C>T	NP_001369702.1:n.*67C>T
NM_001382774.1:c.899C>T	NP_001369703.1:p.Pro300Leu