Canonical Allele Identifier: CA30816967

Gene: IL6R

Linked Data

• dbSNP Id: rs375558987
• gnomAD v2: 1-154438237-C-T
• gnomAD v3: 1-154465761-C-T
• gnomAD v4: 1-154465761-C-T
• MyVariant Identifiers: chr1:g.154438237C>T (hg19) ; chr1:g.154465761C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465761C>T , CM000663.2:g.154465761C>T	GRCh38
NC_000001.10:g.154438237C>T , CM000663.1:g.154438237C>T	GRCh37
NC_000001.9:g.152704861C>T	NCBI36
NG_012087.1:g.65569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.*381C>T MANE Select	ENSP00000357470.3:n.*381C>T
ENST00000344086.8:c.*596C>T	ENSP00000340589.4:n.*596C>T
ENST00000368485.7:c.*381C>T	ENSP00000357470.3:n.*381C>T
NM_000565.3:c.*381C>T	NP_000556.1:n.*381C>T
NM_181359.2:c.*596C>T	NP_852004.1:n.*596C>T
XM_005245139.1:c.*469C>T	XP_005245196.1:n.*469C>T
XM_005245140.1:c.*629C>T	XP_005245197.1:n.*629C>T
XM_006711298.1:c.*381C>T	XP_006711361.1:n.*381C>T
XM_005245139.2:c.*469C>T	XP_005245196.1:n.*469C>T
XM_005245140.3:c.*629C>T	XP_005245197.1:n.*629C>T
XM_006711298.2:c.*381C>T	XP_006711361.1:n.*381C>T
XM_017001199.2:c.*381C>T	XP_016856688.1:n.*381C>T
XM_017001200.2:c.*381C>T	XP_016856689.1:n.*381C>T
XM_017001201.2:c.*629C>T	XP_016856690.1:n.*629C>T
NM_000565.4:c.*381C>T MANE Select	NP_000556.1:n.*381C>T
NM_181359.3:c.*596C>T	NP_852004.1:n.*596C>T
NM_001382769.1:c.*381C>T	NP_001369698.1:n.*381C>T
NM_001382770.1:c.*381C>T	NP_001369699.1:n.*381C>T
NM_001382771.1:c.*381C>T	NP_001369700.1:n.*381C>T
NM_001382772.1:c.*381C>T	NP_001369701.1:n.*381C>T
NM_001382773.1:c.*596C>T	NP_001369702.1:n.*596C>T
NM_001382774.1:c.*381C>T	NP_001369703.1:n.*381C>T