Canonical Allele Identifier: CA123920
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14390
ClinVar RCV Id: RCV000015468
dbSNP Id: rs121912522

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688082G>A , CM000664.2:g.48688082G>A GRCh38
NC_000002.10:g.48768725G>A NCBI36
NC_000002.11:g.48915221G>A , CM000664.1:g.48915221G>A GRCh37
NG_008193.1:g.72660C>T
NG_033050.1:g.163158G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000294954.11:c.1715C>T ENSP00000294954.6:p.Ala572Val
ENST00000401907.5:c.*27C>T ENSP00000385406.1:p.=
ENST00000402114.6:c.3441+16402G>A ENSP00000385701.1:p.=
ENST00000403273.5:c.*459C>T ENSP00000385847.1:p.=
ENST00000405626.5:n.1634C>T ENSP00000386033.1:p.Ala545Val
ENST00000508440.1:n.276+16402G>A ENSP00000421474.1:p.=
ENST00000602369.3:c.*220+6142C>T ENSP00000473498.1:p.=
NM_000233.3:c.1715C>T (LHCGR) NP_000224.2:p.Ala572Val
NM_001198593.1:c.3441+16402G>A (STON1-GTF2A1L) NP_001185522.1:p.=
XM_005264309.2:c.758C>T (LHCGR) XP_005264366.1:p.Ala253Val
XM_006712015.2:c.785C>T (LHCGR) XP_006712078.1:p.Ala262Val
XM_011532828.1:c.1640C>T (LHCGR) XP_011531130.1:p.Ala547Val
XM_011532829.1:c.1454C>T (LHCGR) XP_011531131.1:p.Ala485Val
XM_011532830.1:c.1373C>T (LHCGR) XP_011531132.1:p.Ala458Val
XM_011532831.1:c.1079C>T (LHCGR) XP_011531133.1:p.Ala360Val
XM_011532832.1:c.785C>T (LHCGR) XP_011531134.1:p.Ala262Val
XM_011532833.1:c.785C>T (LHCGR) XP_011531135.1:p.Ala262Val
XM_011532834.1:c.758C>T (LHCGR) XP_011531136.1:p.Ala253Val