Canonical Allele Identifier: CA342012638

Gene: RORC

Linked Data

• ClinVar Variation Id: 1939057
• ClinVar RCV Id: RCV002649809
• dbSNP Id: rs1286278056
• gnomAD v3: 1-151813509-G-T
• gnomAD v4: 1-151813509-G-T
• COSMIC: COSM236558
• MyVariant Identifiers: chr1:g.151785985G>T (hg19) ; chr1:g.151813509G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151813509G>T , CM000663.2:g.151813509G>T	GRCh38
NC_000001.10:g.151785985G>T , CM000663.1:g.151785985G>T	GRCh37
NC_000001.9:g.150052609G>T	NCBI36
NG_029118.1:g.23364C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652040.2:c.760C>A	ENSP00000498548.2:p.Gln254Lys
ENST00000697811.1:c.933+1065C>A	ENSP00000513447.1:n.933+1065C>A
ENST00000697812.1:n.183C>A
ENST00000697813.1:n.1040C>A
ENST00000318247.7:c.1045C>A MANE Select	ENSP00000327025.6:p.Gln349Lys
ENST00000356728.11:c.982C>A	ENSP00000349164.6:p.Gln328Lys
ENST00000638901.1:c.1236C>A
ENST00000651814.1:c.*2C>A	ENSP00000498691.1:n.*2C>A
ENST00000651893.1:c.344-163C>A
ENST00000318247.6:c.1045C>A	ENSP00000327025.6:p.Gln349Lys
ENST00000356728.10:c.982C>A	ENSP00000349164.6:p.Gln328Lys
ENST00000480719.1:n.1281C>A
NM_001001523.1:c.982C>A	NP_001001523.1:p.Gln328Lys
NM_005060.3:c.1045C>A	NP_005051.2:p.Gln349Lys
XM_006711484.2:c.1444C>A	XP_006711547.2:p.Gln482Lys
XR_426792.2:n.1806C>A
XM_006711484.4:c.1444C>A	XP_006711547.2:p.Gln482Lys
NM_005060.4:c.1045C>A MANE Select	NP_005051.2:p.Gln349Lys
NM_001001523.2:c.982C>A	NP_001001523.1:p.Gln328Lys