Canonical Allele Identifier: CA123933
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14407
ClinVar RCV Id: RCV000015488
dbSNP Id: rs121912534

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688094G>A , CM000664.2:g.48688094G>A GRCh38
NC_000002.11:g.48915233G>A , CM000664.1:g.48915233G>A GRCh37
NC_000002.10:g.48768737G>A NCBI36
NG_008193.1:g.72648C>T
NG_033050.1:g.163170G>A
NG_008193.2:g.72648C>T
NG_033050.2:g.163170G>A

Transcript Alleles

HGVS Amino-acid change
NM_000233.3:c.1703C>T (LHCGR) VV NP_000224.2:p.Ala568Val
NM_001198593.1:c.3441+16414G>A (STON1-GTF2A1L) VV NP_001185522.1:p.=
XM_005264309.2:c.746C>T (LHCGR) XP_005264366.1:p.Ala249Val
XM_006712015.2:c.773C>T (LHCGR) XP_006712078.1:p.Ala258Val
XM_011532828.1:c.1628C>T (LHCGR) XP_011531130.1:p.Ala543Val
XM_011532829.1:c.1442C>T (LHCGR) XP_011531131.1:p.Ala481Val
XM_011532830.1:c.1361C>T (LHCGR) XP_011531132.1:p.Ala454Val
XM_011532831.1:c.1067C>T (LHCGR) XP_011531133.1:p.Ala356Val
XM_011532832.1:c.773C>T (LHCGR) XP_011531134.1:p.Ala258Val
XM_011532833.1:c.773C>T (LHCGR) XP_011531135.1:p.Ala258Val
XM_011532834.1:c.746C>T (LHCGR) XP_011531136.1:p.Ala249Val
XM_005264309.3:c.746C>T (LHCGR) XP_005264366.1:p.Ala249Val
XM_006712015.3:c.773C>T (LHCGR) XP_006712078.1:p.Ala258Val
XM_011532834.2:c.746C>T (LHCGR) XP_011531136.1:p.Ala249Val
XM_017004089.1:c.1448C>T (LHCGR) XP_016859578.1:p.Ala483Val
XM_017004090.1:c.1067C>T (LHCGR) XP_016859579.1:p.Ala356Val
NM_000233.4:c.1703C>T (LHCGR) VV NP_000224.2:p.Ala568Val
ENST00000294954.11:c.1703C>T ENSP00000294954.6:p.Ala568Val
ENST00000401907.5:c.*15C>T ENSP00000385406.1:p.=
ENST00000402114.6:c.3441+16414G>A ENSP00000385701.1:p.=
ENST00000403273.5:c.*447C>T ENSP00000385847.1:p.=
ENST00000405626.5:n.1622C>T ENSP00000386033.1:p.Ala541Val
ENST00000508440.1:n.276+16414G>A ENSP00000421474.1:p.=
ENST00000602369.3:c.*220+6130C>T ENSP00000473498.1:p.=