Canonical Allele Identifier: CA30493011

Gene: RORC

Linked Data

• ClinVar Variation Id: 542376
• ClinVar RCV Id: RCV000652789
• dbSNP Id: rs200523716
• MyVariant Identifiers: chr1:g.151785461T>C (hg19) ; chr1:g.151812985T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151812985T>C , CM000663.2:g.151812985T>C	GRCh38
NC_000001.10:g.151785461T>C , CM000663.1:g.151785461T>C	GRCh37
NC_000001.9:g.150052085T>C	NCBI36
NG_029118.1:g.23888A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652040.2:c.962A>G	ENSP00000498548.2:p.Glu321Gly
ENST00000697811.1:c.934-1551A>G	ENSP00000513447.1:n.934-1551A>G
ENST00000697812.1:n.385A>G
ENST00000697813.1:n.1423A>G
ENST00000318247.7:c.1247A>G MANE Select	ENSP00000327025.6:p.Glu416Gly
ENST00000356728.11:c.1184A>G	ENSP00000349164.6:p.Glu395Gly
ENST00000638901.1:c.1438A>G
ENST00000651814.1:c.*204A>G	ENSP00000498691.1:n.*204A>G
ENST00000651893.1:c.524A>G
ENST00000318247.6:c.1247A>G	ENSP00000327025.6:p.Glu416Gly
ENST00000356728.10:c.1184A>G	ENSP00000349164.6:p.Glu395Gly
ENST00000480719.1:n.1805A>G
NM_001001523.1:c.1184A>G	NP_001001523.1:p.Glu395Gly
NM_005060.3:c.1247A>G	NP_005051.2:p.Glu416Gly
XM_006711484.2:c.1646A>G	XP_006711547.2:p.Glu549Gly
XR_426792.2:n.2008A>G
XM_006711484.4:c.1646A>G	XP_006711547.2:p.Glu549Gly
NM_005060.4:c.1247A>G MANE Select	NP_005051.2:p.Glu416Gly
NM_001001523.2:c.1184A>G	NP_001001523.1:p.Glu395Gly