Canonical Allele Identifier: CA123927
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14398
dbSNP Id: rs121912529

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688737C>T , CM000664.2:g.48688737C>T GRCh38
NC_000002.11:g.48915876C>T , CM000664.1:g.48915876C>T GRCh37
NC_000002.10:g.48769380C>T NCBI36
NG_008193.1:g.72005G>A
NG_033050.1:g.163813C>T
NG_008193.2:g.72005G>A
NG_033050.2:g.163813C>T

Transcript Alleles

HGVS Amino-acid change
NM_000233.3:c.1060G>A (LHCGR) VV NP_000224.2:p.Glu354Lys
NM_001198593.1:c.3441+17057C>T (STON1-GTF2A1L) VV NP_001185522.1:p.=
XM_005264309.2:c.103G>A (LHCGR) XP_005264366.1:p.Glu35Lys
XM_006712015.2:c.130G>A (LHCGR) XP_006712078.1:p.Glu44Lys
XM_011532828.1:c.985G>A (LHCGR) XP_011531130.1:p.Glu329Lys
XM_011532829.1:c.799G>A (LHCGR) XP_011531131.1:p.Glu267Lys
XM_011532830.1:c.718G>A (LHCGR) XP_011531132.1:p.Glu240Lys
XM_011532831.1:c.424G>A (LHCGR) XP_011531133.1:p.Glu142Lys
XM_011532832.1:c.130G>A (LHCGR) XP_011531134.1:p.Glu44Lys
XM_011532833.1:c.130G>A (LHCGR) XP_011531135.1:p.Glu44Lys
XM_011532834.1:c.103G>A (LHCGR) XP_011531136.1:p.Glu35Lys
XM_005264309.3:c.103G>A (LHCGR) XP_005264366.1:p.Glu35Lys
XM_006712015.3:c.130G>A (LHCGR) XP_006712078.1:p.Glu44Lys
XM_011532834.2:c.103G>A (LHCGR) XP_011531136.1:p.Glu35Lys
XM_017004089.1:c.805G>A (LHCGR) XP_016859578.1:p.Glu269Lys
XM_017004090.1:c.424G>A (LHCGR) XP_016859579.1:p.Glu142Lys
NM_000233.4:c.1060G>A (LHCGR) VV NP_000224.2:p.Glu354Lys
ENST00000294954.11:c.1060G>A ENSP00000294954.6:p.Glu354Lys
ENST00000401907.5:c.948-598G>A ENSP00000385406.1:p.=
ENST00000402114.6:c.3441+17057C>T ENSP00000385701.1:p.=
ENST00000403273.5:c.948-154G>A ENSP00000385847.1:p.=
ENST00000405626.5:n.979G>A ENSP00000386033.1:p.Glu327Lys
ENST00000508440.1:n.276+17057C>T ENSP00000421474.1:p.=
ENST00000602369.3:c.*220+5487G>A ENSP00000473498.1:p.=