Canonical Allele Identifier: CA10086205

Gene: IL17RA

Linked Data

• ClinVar Variation Id: 340562
• ClinVar RCV Id: RCV000352789 ; RCV000533617 ; RCV001701860 ; RCV003910335
• dbSNP Id: rs143652002
• ExAC: 22:17566001 C / T
• gnomAD v2: 22-17566001-C-T
• gnomAD v3: 22-17085111-C-T
• gnomAD v4: 22-17085111-C-T
• COSMIC: COSM4597605
• MyVariant Identifiers: chr22:g.17566001C>T (hg19) ; chr22:g.17085111C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17085111C>T , CM000684.2:g.17085111C>T	GRCh38
NC_000022.10:g.17566001C>T , CM000684.1:g.17566001C>T	GRCh37
NC_000022.9:g.15946001C>T	NCBI36
NG_028257.1:g.5151C>T , LRG_355:g.5151C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000612619.2:c.20C>T	ENSP00000479970.1:p.Pro7Leu
ENST00000694948.1:n.118C>T
ENST00000694949.1:n.115C>T
ENST00000694950.1:c.100C>T
ENST00000319363.11:c.20C>T MANE Select	ENSP00000320936.6:p.Pro7Leu
ENST00000319363.10:c.20C>T	ENSP00000320936.6:p.Pro7Leu
ENST00000459971.1:n.55C>T
ENST00000477874.1:n.158C>T
ENST00000612619.1:c.20C>T	ENSP00000479970.1:p.Pro7Leu
NM_001289905.1:c.20C>T	NP_001276834.1:p.Pro7Leu
NM_014339.6:c.20C>T , LRG_355t1:c.20C>T	NP_055154.3:p.Pro7Leu
NM_014339.7:c.20C>T MANE Select	NP_055154.3:p.Pro7Leu
NM_001289905.2:c.20C>T	NP_001276834.1:p.Pro7Leu