Canonical Allele Identifier: CA30493672

Gene: RORC

Linked Data

• ClinVar Variation Id: 1983770
• ClinVar RCV Id: RCV002800098
• dbSNP Id: rs1005154151
• gnomAD v2: 1-151785946-C-T
• gnomAD v3: 1-151813470-C-T
• gnomAD v4: 1-151813470-C-T
• MyVariant Identifiers: chr1:g.151785946C>T (hg19) ; chr1:g.151813470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151813470C>T , CM000663.2:g.151813470C>T	GRCh38
NC_000001.10:g.151785946C>T , CM000663.1:g.151785946C>T	GRCh37
NC_000001.9:g.150052570C>T	NCBI36
NG_029118.1:g.23403G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652040.2:c.781+18G>A	ENSP00000498548.2:n.781+18G>A
ENST00000697811.1:c.933+1104G>A	ENSP00000513447.1:n.933+1104G>A
ENST00000697812.1:n.204+18G>A
ENST00000697813.1:n.1061+18G>A
ENST00000318247.7:c.1066+18G>A MANE Select	ENSP00000327025.6:n.1066+18G>A
ENST00000356728.11:c.1003+18G>A	ENSP00000349164.6:n.1003+18G>A
ENST00000638901.1:c.1257+18G>A
ENST00000651814.1:c.*23+18G>A	ENSP00000498691.1:n.*23+18G>A
ENST00000651893.1:c.344-124G>A
ENST00000318247.6:c.1066+18G>A	ENSP00000327025.6:n.1066+18G>A
ENST00000356728.10:c.1003+18G>A	ENSP00000349164.6:n.1003+18G>A
ENST00000480719.1:n.1320G>A
NM_001001523.1:c.1003+18G>A	NP_001001523.1:n.1003+18G>A
NM_005060.3:c.1066+18G>A	NP_005051.2:n.1066+18G>A
XM_006711484.2:c.1465+18G>A	XP_006711547.2:n.1465+18G>A
XR_426792.2:n.1827+18G>A
XM_006711484.4:c.1465+18G>A	XP_006711547.2:n.1465+18G>A
NM_005060.4:c.1066+18G>A MANE Select	NP_005051.2:n.1066+18G>A
NM_001001523.2:c.1003+18G>A	NP_001001523.1:n.1003+18G>A