Canonical Allele Identifier: CA7974962

Gene: IL21R

Linked Data

• ClinVar Variation Id: 2190809
• ClinVar RCV Id: RCV002628260
• dbSNP Id: rs374621384
• ExAC: 16:27454306 G / A
• gnomAD v2: 16-27454306-G-A
• gnomAD v3: 16-27442985-G-A
• gnomAD v4: 16-27442985-G-A
• MyVariant Identifiers: chr16:g.27454306G>A (hg19) ; chr16:g.27442985G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27442985G>A , CM000678.2:g.27442985G>A	GRCh38
NC_000016.9:g.27454306G>A , CM000678.1:g.27454306G>A	GRCh37
NC_000016.8:g.27361807G>A	NCBI36
NG_012222.1:g.45584G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697146.1:c.371G>A	ENSP00000513135.1:p.Arg124His
ENST00000337929.8:c.376G>A MANE Select	ENSP00000338010.3:p.Val126Met
ENST00000337929.7:c.376G>A	ENSP00000338010.3:p.Val126Met
ENST00000395754.4:c.376G>A	ENSP00000379103.4:p.Val126Met
ENST00000561953.1:n.316G>A
ENST00000564089.5:c.376G>A	ENSP00000456707.1:p.Val126Met
NM_021798.3:c.376G>A	NP_068570.1:p.Val126Met
NM_181078.2:c.376G>A	NP_851564.1:p.Val126Met
NM_181079.4:c.442G>A	NP_851565.4:p.Val148Met
XM_011545857.1:c.442G>A	XP_011544159.1:p.Val148Met
XM_011545858.1:c.136-1557G>A	XP_011544160.1:n.136-1557G>A
XM_011545857.3:c.442G>A	XP_011544159.1:p.Val148Met
XM_011545858.3:c.136-1557G>A	XP_011544160.1:n.136-1557G>A
XM_017023257.2:c.376G>A	XP_016878746.1:p.Val126Met
NM_181078.3:c.376G>A MANE Select	NP_851564.1:p.Val126Met
NM_021798.4:c.376G>A	NP_068570.1:p.Val126Met
NM_181079.5:c.442G>A	NP_851565.4:p.Val148Met