Canonical Allele Identifier: CA342013109

Gene: RORC

Linked Data

• ClinVar Variation Id: 2053961
• ClinVar RCV Id: RCV002919208
• gnomAD v4: 1-151813589-T-C
• MyVariant Identifiers: chr1:g.151786065T>C (hg19) ; chr1:g.151813589T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151813589T>C , CM000663.2:g.151813589T>C	GRCh38
NC_000001.10:g.151786065T>C , CM000663.1:g.151786065T>C	GRCh37
NC_000001.9:g.150052689T>C	NCBI36
NG_029118.1:g.23284A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652040.2:c.680A>G	ENSP00000498548.2:p.His227Arg
ENST00000697811.1:c.933+985A>G	ENSP00000513447.1:n.933+985A>G
ENST00000697812.1:n.103A>G
ENST00000697813.1:n.960A>G
ENST00000318247.7:c.965A>G MANE Select	ENSP00000327025.6:p.His322Arg
ENST00000356728.11:c.902A>G	ENSP00000349164.6:p.His301Arg
ENST00000638901.1:c.1156A>G
ENST00000651814.1:c.1047A>G	ENSP00000498691.1:p.Pro349=
ENST00000651893.1:c.344-243A>G
ENST00000318247.6:c.965A>G	ENSP00000327025.6:p.His322Arg
ENST00000356728.10:c.902A>G	ENSP00000349164.6:p.His301Arg
ENST00000480719.1:n.1201A>G
NM_001001523.1:c.902A>G	NP_001001523.1:p.His301Arg
NM_005060.3:c.965A>G	NP_005051.2:p.His322Arg
XM_006711484.2:c.1364A>G	XP_006711547.2:p.His455Arg
XR_426792.2:n.1726A>G
XM_006711484.4:c.1364A>G	XP_006711547.2:p.His455Arg
NM_005060.4:c.965A>G MANE Select	NP_005051.2:p.His322Arg
NM_001001523.2:c.902A>G	NP_001001523.1:p.His301Arg