Canonical Allele Identifier: CA420772533
Gene: RORC HGNC NCBI

Linked Data

ClinVar Variation Id: 2852811
ClinVar RCV Id: RCV003755832
MyVariant Identifiers: chr1:g.151780026C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151807550C>T , CM000663.2:g.151807550C>T GRCh38
NC_000001.10:g.151780026C>T , CM000663.1:g.151780026C>T GRCh37
NC_000001.9:g.150046650C>T NCBI36
NG_029118.1:g.29323G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000652040.2:c.1194G>A ENSP00000498548.2:p.Val398=
ENST00000697811.1:c.*161G>A ENSP00000513447.1:n.*161G>A
ENST00000318247.7:c.1479G>A MANE Select ENSP00000327025.6:p.Val493=
ENST00000356728.11:c.1416G>A ENSP00000349164.6:p.Val472=
ENST00000638901.1:c.1670G>A
ENST00000651814.1:c.*436G>A ENSP00000498691.1:n.*436G>A
ENST00000651893.1:c.756G>A
ENST00000318247.6:c.1479G>A ENSP00000327025.6:p.Val493=
ENST00000356728.10:c.1416G>A ENSP00000349164.6:p.Val472=
ENST00000480719.1:n.3549G>A
NM_001001523.1:c.1416G>A NP_001001523.1:p.Val472=
NM_005060.3:c.1479G>A NP_005051.2:p.Val493=
XM_006711484.2:c.1878G>A XP_006711547.2:p.Val626=
XM_006711484.4:c.1878G>A XP_006711547.2:p.Val626=
NM_005060.4:c.1479G>A MANE Select NP_005051.2:p.Val493=
NM_001001523.2:c.1416G>A NP_001001523.1:p.Val472=