Canonical Allele Identifier: CA346744596
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

gnomAD v4: 2-48688023-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688023C>T , CM000664.2:g.48688023C>T GRCh38
NC_000002.11:g.48915162C>T , CM000664.1:g.48915162C>T GRCh37
NC_000002.10:g.48768666C>T NCBI36
NG_008193.1:g.72719G>A
NG_033050.1:g.163099C>T
NG_008193.2:g.72719G>A
NG_033050.2:g.163099C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1774G>A (LHCGR) MANE Select ENSP00000294954.6:p.Ala592Thr
ENST00000294954.11:c.1774G>A (LHCGR) ENSP00000294954.6:p.Ala592Thr
ENST00000401907.5:c.*86G>A (LHCGR) ENSP00000385406.1:n.*86G>A
ENST00000402114.6:c.3441+16343C>T (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16343C>T
ENST00000403273.5:c.*518G>A (LHCGR) ENSP00000385847.1:n.*518G>A
ENST00000405626.5:c.1693G>A (LHCGR) ENSP00000386033.1:p.Ala565Thr
ENST00000508440.1:c.276+16343C>T (GTF2A1L) ENSP00000421474.1:n.276+16343C>T
ENST00000602369.3:c.*220+6201G>A ENSP00000473498.1:n.*220+6201G>A
NM_000233.3:c.1774G>A (LHCGR) NP_000224.2:p.Ala592Thr
NM_001198593.1:c.3441+16343C>T (STON1-GTF2A1L) NP_001185522.1:n.3441+16343C>T
XM_005264309.2:c.817G>A (LHCGR) XP_005264366.1:p.Ala273Thr
XM_006712015.2:c.844G>A (LHCGR) XP_006712078.1:p.Ala282Thr
XM_011532828.1:c.1699G>A (LHCGR) XP_011531130.1:p.Ala567Thr
XM_011532829.1:c.1513G>A (LHCGR) XP_011531131.1:p.Ala505Thr
XM_011532830.1:c.1432G>A (LHCGR) XP_011531132.1:p.Ala478Thr
XM_011532831.1:c.1138G>A (LHCGR) XP_011531133.1:p.Ala380Thr
XM_011532832.1:c.844G>A (LHCGR) XP_011531134.1:p.Ala282Thr
XM_011532833.1:c.844G>A (LHCGR) XP_011531135.1:p.Ala282Thr
XM_011532834.1:c.817G>A (LHCGR) XP_011531136.1:p.Ala273Thr
XM_005264309.3:c.817G>A (LHCGR) XP_005264366.1:p.Ala273Thr
XM_006712015.3:c.844G>A (LHCGR) XP_006712078.1:p.Ala282Thr
XM_011532834.2:c.817G>A (LHCGR) XP_011531136.1:p.Ala273Thr
XM_017004089.1:c.1519G>A (LHCGR) XP_016859578.1:p.Ala507Thr
XM_017004090.1:c.1138G>A (LHCGR) XP_016859579.1:p.Ala380Thr
NM_000233.4:c.1774G>A (LHCGR) MANE Select NP_000224.2:p.Ala592Thr
NM_001198593.2:c.3441+16343C>T (STON1-GTF2A1L) NP_001185522.1:n.3441+16343C>T