Canonical Allele Identifier: CA123928
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

ClinVar Variation Id: 14400
ClinVar RCV Id: RCV000015481
dbSNP Id: rs121912530
gnomAD v3: 2-48687923-A-T
gnomAD v4: 2-48687923-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48687923A>T , CM000664.2:g.48687923A>T GRCh38
NC_000002.11:g.48915062A>T , CM000664.1:g.48915062A>T GRCh37
NC_000002.10:g.48768566A>T NCBI36
NG_008193.1:g.72819T>A
NG_033050.1:g.162999A>T
NG_008193.2:g.72819T>A
NG_033050.2:g.162999A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000294954.12:c.1874T>A (LHCGR) MANE Select ENSP00000294954.6:p.Ile625Lys
ENST00000294954.11:c.1874T>A (LHCGR) ENSP00000294954.6:p.Ile625Lys
ENST00000401907.5:c.*186T>A (LHCGR) ENSP00000385406.1:n.*186T>A
ENST00000402114.6:c.3441+16243A>T (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16243A>T
ENST00000403273.5:c.*618T>A (LHCGR) ENSP00000385847.1:n.*618T>A
ENST00000405626.5:c.1793T>A (LHCGR) ENSP00000386033.1:p.Ile598Lys
ENST00000508440.1:c.276+16243A>T (GTF2A1L) ENSP00000421474.1:n.276+16243A>T
ENST00000602369.3:c.*220+6301T>A ENSP00000473498.1:n.*220+6301T>A
NM_000233.3:c.1874T>A (LHCGR) NP_000224.2:p.Ile625Lys
NM_001198593.1:c.3441+16243A>T (STON1-GTF2A1L) NP_001185522.1:n.3441+16243A>T
XM_005264309.2:c.917T>A (LHCGR) XP_005264366.1:p.Ile306Lys
XM_006712015.2:c.944T>A (LHCGR) XP_006712078.1:p.Ile315Lys
XM_011532828.1:c.1799T>A (LHCGR) XP_011531130.1:p.Ile600Lys
XM_011532829.1:c.1613T>A (LHCGR) XP_011531131.1:p.Ile538Lys
XM_011532830.1:c.1532T>A (LHCGR) XP_011531132.1:p.Ile511Lys
XM_011532831.1:c.1238T>A (LHCGR) XP_011531133.1:p.Ile413Lys
XM_011532832.1:c.944T>A (LHCGR) XP_011531134.1:p.Ile315Lys
XM_011532833.1:c.944T>A (LHCGR) XP_011531135.1:p.Ile315Lys
XM_011532834.1:c.917T>A (LHCGR) XP_011531136.1:p.Ile306Lys
XM_005264309.3:c.917T>A (LHCGR) XP_005264366.1:p.Ile306Lys
XM_006712015.3:c.944T>A (LHCGR) XP_006712078.1:p.Ile315Lys
XM_011532834.2:c.917T>A (LHCGR) XP_011531136.1:p.Ile306Lys
XM_017004089.1:c.1619T>A (LHCGR) XP_016859578.1:p.Ile540Lys
XM_017004090.1:c.1238T>A (LHCGR) XP_016859579.1:p.Ile413Lys
NM_000233.4:c.1874T>A (LHCGR) MANE Select NP_000224.2:p.Ile625Lys
NM_001198593.2:c.3441+16243A>T (STON1-GTF2A1L) NP_001185522.1:n.3441+16243A>T