Canonical Allele Identifier: CA889598632

Gene: IL6R

Linked Data

• dbSNP Id: rs1348181596
• gnomAD v3: 1-154465613-G-A
• gnomAD v4: 1-154465613-G-A
• MyVariant Identifiers: chr1:g.154438089G>A (hg19) ; chr1:g.154465613G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465613G>A , CM000663.2:g.154465613G>A	GRCh38
NC_000001.10:g.154438089G>A , CM000663.1:g.154438089G>A	GRCh37
NC_000001.9:g.152704713G>A	NCBI36
NG_012087.1:g.65421G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.*233G>A MANE Select	ENSP00000357470.3:n.*233G>A
ENST00000344086.8:c.*448G>A	ENSP00000340589.4:n.*448G>A
ENST00000368485.7:c.*233G>A	ENSP00000357470.3:n.*233G>A
NM_000565.3:c.*233G>A	NP_000556.1:n.*233G>A
NM_181359.2:c.*448G>A	NP_852004.1:n.*448G>A
XM_005245139.1:c.*321G>A	XP_005245196.1:n.*321G>A
XM_005245140.1:c.*481G>A	XP_005245197.1:n.*481G>A
XM_006711298.1:c.*233G>A	XP_006711361.1:n.*233G>A
XM_005245139.2:c.*321G>A	XP_005245196.1:n.*321G>A
XM_005245140.3:c.*481G>A	XP_005245197.1:n.*481G>A
XM_006711298.2:c.*233G>A	XP_006711361.1:n.*233G>A
XM_017001199.2:c.*233G>A	XP_016856688.1:n.*233G>A
XM_017001200.2:c.*233G>A	XP_016856689.1:n.*233G>A
XM_017001201.2:c.*481G>A	XP_016856690.1:n.*481G>A
NM_000565.4:c.*233G>A MANE Select	NP_000556.1:n.*233G>A
NM_181359.3:c.*448G>A	NP_852004.1:n.*448G>A
NM_001382769.1:c.*233G>A	NP_001369698.1:n.*233G>A
NM_001382770.1:c.*233G>A	NP_001369699.1:n.*233G>A
NM_001382771.1:c.*233G>A	NP_001369700.1:n.*233G>A
NM_001382772.1:c.*233G>A	NP_001369701.1:n.*233G>A
NM_001382773.1:c.*448G>A	NP_001369702.1:n.*448G>A
NM_001382774.1:c.*233G>A	NP_001369703.1:n.*233G>A