Canonical Allele Identifier: CA123934
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14408
ClinVar RCV Id: RCV000015489
dbSNP Id: rs121912535

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688427A>C , CM000664.2:g.48688427A>C GRCh38
NC_000002.11:g.48915566A>C , CM000664.1:g.48915566A>C GRCh37
NC_000002.10:g.48769070A>C NCBI36
NG_008193.1:g.72315T>G
NG_033050.1:g.163503A>C
NG_008193.2:g.72315T>G
NG_033050.2:g.163503A>C

Transcript Alleles

HGVS Amino-acid change
NM_000233.3:c.1370T>G (LHCGR) VV NP_000224.2:p.Leu457Arg
NM_001198593.1:c.3441+16747A>C (STON1-GTF2A1L) VV NP_001185522.1:p.=
XM_005264309.2:c.413T>G (LHCGR) XP_005264366.1:p.Leu138Arg
XM_006712015.2:c.440T>G (LHCGR) XP_006712078.1:p.Leu147Arg
XM_011532828.1:c.1295T>G (LHCGR) XP_011531130.1:p.Leu432Arg
XM_011532829.1:c.1109T>G (LHCGR) XP_011531131.1:p.Leu370Arg
XM_011532830.1:c.1028T>G (LHCGR) XP_011531132.1:p.Leu343Arg
XM_011532831.1:c.734T>G (LHCGR) XP_011531133.1:p.Leu245Arg
XM_011532832.1:c.440T>G (LHCGR) XP_011531134.1:p.Leu147Arg
XM_011532833.1:c.440T>G (LHCGR) XP_011531135.1:p.Leu147Arg
XM_011532834.1:c.413T>G (LHCGR) XP_011531136.1:p.Leu138Arg
XM_005264309.3:c.413T>G (LHCGR) XP_005264366.1:p.Leu138Arg
XM_006712015.3:c.440T>G (LHCGR) XP_006712078.1:p.Leu147Arg
XM_011532834.2:c.413T>G (LHCGR) XP_011531136.1:p.Leu138Arg
XM_017004089.1:c.1115T>G (LHCGR) XP_016859578.1:p.Leu372Arg
XM_017004090.1:c.734T>G (LHCGR) XP_016859579.1:p.Leu245Arg
NM_000233.4:c.1370T>G (LHCGR) VV NP_000224.2:p.Leu457Arg
ENST00000294954.11:c.1370T>G ENSP00000294954.6:p.Leu457Arg
ENST00000401907.5:c.948-288T>G ENSP00000385406.1:p.=
ENST00000402114.6:c.3441+16747A>C ENSP00000385701.1:p.=
ENST00000403273.5:c.*114T>G ENSP00000385847.1:p.=
ENST00000405626.5:n.1289T>G ENSP00000386033.1:p.Leu430Arg
ENST00000508440.1:n.276+16747A>C ENSP00000421474.1:p.=
ENST00000602369.3:c.*220+5797T>G ENSP00000473498.1:p.=