Canonical Allele Identifier: CA123923
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14393
ClinVar RCV Id: RCV000015472
dbSNP Id: rs121912525

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48687950G>T , CM000664.2:g.48687950G>T GRCh38
NC_000002.11:g.48915089G>T , CM000664.1:g.48915089G>T GRCh37
NC_000002.10:g.48768593G>T NCBI36
NG_008193.1:g.72792C>A
NG_033050.1:g.163026G>T
NG_008193.2:g.72792C>A
NG_033050.2:g.163026G>T

Transcript Alleles

HGVS Amino-acid change
NM_000233.3:c.1847C>A (LHCGR) VV NP_000224.2:p.Ser616Tyr
NM_001198593.1:c.3441+16270G>T (STON1-GTF2A1L) VV NP_001185522.1:p.=
XM_005264309.2:c.890C>A (LHCGR) XP_005264366.1:p.Ser297Tyr
XM_006712015.2:c.917C>A (LHCGR) XP_006712078.1:p.Ser306Tyr
XM_011532828.1:c.1772C>A (LHCGR) XP_011531130.1:p.Ser591Tyr
XM_011532829.1:c.1586C>A (LHCGR) XP_011531131.1:p.Ser529Tyr
XM_011532830.1:c.1505C>A (LHCGR) XP_011531132.1:p.Ser502Tyr
XM_011532831.1:c.1211C>A (LHCGR) XP_011531133.1:p.Ser404Tyr
XM_011532832.1:c.917C>A (LHCGR) XP_011531134.1:p.Ser306Tyr
XM_011532833.1:c.917C>A (LHCGR) XP_011531135.1:p.Ser306Tyr
XM_011532834.1:c.890C>A (LHCGR) XP_011531136.1:p.Ser297Tyr
XM_005264309.3:c.890C>A (LHCGR) XP_005264366.1:p.Ser297Tyr
XM_006712015.3:c.917C>A (LHCGR) XP_006712078.1:p.Ser306Tyr
XM_011532834.2:c.890C>A (LHCGR) XP_011531136.1:p.Ser297Tyr
XM_017004089.1:c.1592C>A (LHCGR) XP_016859578.1:p.Ser531Tyr
XM_017004090.1:c.1211C>A (LHCGR) XP_016859579.1:p.Ser404Tyr
NM_000233.4:c.1847C>A (LHCGR) VV NP_000224.2:p.Ser616Tyr
ENST00000294954.11:c.1847C>A ENSP00000294954.6:p.Ser616Tyr
ENST00000401907.5:c.*159C>A ENSP00000385406.1:p.=
ENST00000402114.6:c.3441+16270G>T ENSP00000385701.1:p.=
ENST00000403273.5:c.*591C>A ENSP00000385847.1:p.=
ENST00000405626.5:n.1766C>A ENSP00000386033.1:p.Ser589Tyr
ENST00000508440.1:n.276+16270G>T ENSP00000421474.1:p.=
ENST00000602369.3:c.*220+6274C>A ENSP00000473498.1:p.=