Canonical Allele Identifier: CA342628691

Gene: IL6R

Linked Data

• gnomAD v4: 1-154465316-C-T
• MyVariant Identifiers: chr1:g.154437792C>T (hg19) ; chr1:g.154465316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465316C>T , CM000663.2:g.154465316C>T	GRCh38
NC_000001.10:g.154437792C>T , CM000663.1:g.154437792C>T	GRCh37
NC_000001.9:g.152704416C>T	NCBI36
NG_012087.1:g.65124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1343C>T MANE Select	ENSP00000357470.3:p.Pro448Leu
ENST00000344086.8:c.*151C>T	ENSP00000340589.4:n.*151C>T
ENST00000368485.7:c.1343C>T	ENSP00000357470.3:p.Pro448Leu
NM_000565.3:c.1343C>T	NP_000556.1:p.Pro448Leu
NM_181359.2:c.*151C>T	NP_852004.1:n.*151C>T
XM_005245139.1:c.*24C>T	XP_005245196.1:n.*24C>T
XM_005245140.1:c.*184C>T	XP_005245197.1:n.*184C>T
XM_006711298.1:c.1391C>T	XP_006711361.1:p.Pro464Leu
XM_005245139.2:c.*24C>T	XP_005245196.1:n.*24C>T
XM_005245140.3:c.*184C>T	XP_005245197.1:n.*184C>T
XM_006711298.2:c.1391C>T	XP_006711361.1:p.Pro464Leu
XM_017001199.2:c.1490C>T	XP_016856688.1:p.Pro497Leu
XM_017001200.2:c.1442C>T	XP_016856689.1:p.Pro481Leu
XM_017001201.2:c.*184C>T	XP_016856690.1:n.*184C>T
NM_000565.4:c.1343C>T MANE Select	NP_000556.1:p.Pro448Leu
NM_181359.3:c.*151C>T	NP_852004.1:n.*151C>T
NM_001382769.1:c.1442C>T	NP_001369698.1:p.Pro481Leu
NM_001382770.1:c.1436C>T	NP_001369699.1:p.Pro479Leu
NM_001382771.1:c.1391C>T	NP_001369700.1:p.Pro464Leu
NM_001382772.1:c.1337C>T	NP_001369701.1:p.Pro446Leu
NM_001382773.1:c.*151C>T	NP_001369702.1:n.*151C>T
NM_001382774.1:c.983C>T	NP_001369703.1:p.Pro328Leu