Canonical Allele Identifier: CA250646
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

ClinVar Variation Id: 14387
ClinVar RCV Id: RCV000015464
dbSNP Id: rs121912537

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688170A>G , CM000664.2:g.48688170A>G GRCh38
NC_000002.11:g.48915309A>G , CM000664.1:g.48915309A>G GRCh37
NC_000002.10:g.48768813A>G NCBI36
NG_008193.1:g.72572T>C
NG_033050.1:g.163246A>G
NG_008193.2:g.72572T>C
NG_033050.2:g.163246A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000294954.12:c.1627T>C (LHCGR) MANE Select ENSP00000294954.6:p.Cys543Arg
ENST00000294954.11:c.1627T>C (LHCGR) ENSP00000294954.6:p.Cys543Arg
ENST00000401907.5:c.948-31T>C (LHCGR) ENSP00000385406.1:n.948-31T>C
ENST00000402114.6:c.3441+16490A>G (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16490A>G
ENST00000403273.5:c.*371T>C (LHCGR) ENSP00000385847.1:n.*371T>C
ENST00000405626.5:c.1546T>C (LHCGR) ENSP00000386033.1:p.Cys516Arg
ENST00000508440.1:c.276+16490A>G (GTF2A1L) ENSP00000421474.1:n.276+16490A>G
ENST00000602369.3:c.*220+6054T>C ENSP00000473498.1:n.*220+6054T>C
NM_000233.3:c.1627T>C (LHCGR) NP_000224.2:p.Cys543Arg
NM_001198593.1:c.3441+16490A>G (STON1-GTF2A1L) NP_001185522.1:n.3441+16490A>G
XM_005264309.2:c.670T>C (LHCGR) XP_005264366.1:p.Cys224Arg
XM_006712015.2:c.697T>C (LHCGR) XP_006712078.1:p.Cys233Arg
XM_011532828.1:c.1552T>C (LHCGR) XP_011531130.1:p.Cys518Arg
XM_011532829.1:c.1366T>C (LHCGR) XP_011531131.1:p.Cys456Arg
XM_011532830.1:c.1285T>C (LHCGR) XP_011531132.1:p.Cys429Arg
XM_011532831.1:c.991T>C (LHCGR) XP_011531133.1:p.Cys331Arg
XM_011532832.1:c.697T>C (LHCGR) XP_011531134.1:p.Cys233Arg
XM_011532833.1:c.697T>C (LHCGR) XP_011531135.1:p.Cys233Arg
XM_011532834.1:c.670T>C (LHCGR) XP_011531136.1:p.Cys224Arg
XM_005264309.3:c.670T>C (LHCGR) XP_005264366.1:p.Cys224Arg
XM_006712015.3:c.697T>C (LHCGR) XP_006712078.1:p.Cys233Arg
XM_011532834.2:c.670T>C (LHCGR) XP_011531136.1:p.Cys224Arg
XM_017004089.1:c.1372T>C (LHCGR) XP_016859578.1:p.Cys458Arg
XM_017004090.1:c.991T>C (LHCGR) XP_016859579.1:p.Cys331Arg
NM_000233.4:c.1627T>C (LHCGR) MANE Select NP_000224.2:p.Cys543Arg
NM_001198593.2:c.3441+16490A>G (STON1-GTF2A1L) NP_001185522.1:n.3441+16490A>G