Canonical Allele Identifier: CA1653012
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

dbSNP Id: rs771069978
gnomAD v2: 2-48915336-G-A
gnomAD v3: 2-48688197-G-A
gnomAD v4: 2-48688197-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688197G>A , CM000664.2:g.48688197G>A GRCh38
NC_000002.11:g.48915336G>A , CM000664.1:g.48915336G>A GRCh37
NC_000002.10:g.48768840G>A NCBI36
NG_008193.1:g.72545C>T
NG_033050.1:g.163273G>A
NG_008193.2:g.72545C>T
NG_033050.2:g.163273G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1600C>T (LHCGR) MANE Select ENSP00000294954.6:p.Leu534Phe
ENST00000294954.11:c.1600C>T (LHCGR) ENSP00000294954.6:p.Leu534Phe
ENST00000401907.5:c.948-58C>T (LHCGR) ENSP00000385406.1:n.948-58C>T
ENST00000402114.6:c.3441+16517G>A (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16517G>A
ENST00000403273.5:c.*344C>T (LHCGR) ENSP00000385847.1:n.*344C>T
ENST00000405626.5:c.1519C>T (LHCGR) ENSP00000386033.1:p.Leu507Phe
ENST00000508440.1:c.276+16517G>A (GTF2A1L) ENSP00000421474.1:n.276+16517G>A
ENST00000602369.3:c.*220+6027C>T ENSP00000473498.1:n.*220+6027C>T
NM_000233.3:c.1600C>T (LHCGR) NP_000224.2:p.Leu534Phe
NM_001198593.1:c.3441+16517G>A (STON1-GTF2A1L) NP_001185522.1:n.3441+16517G>A
XM_005264309.2:c.643C>T (LHCGR) XP_005264366.1:p.Leu215Phe
XM_006712015.2:c.670C>T (LHCGR) XP_006712078.1:p.Leu224Phe
XM_011532828.1:c.1525C>T (LHCGR) XP_011531130.1:p.Leu509Phe
XM_011532829.1:c.1339C>T (LHCGR) XP_011531131.1:p.Leu447Phe
XM_011532830.1:c.1258C>T (LHCGR) XP_011531132.1:p.Leu420Phe
XM_011532831.1:c.964C>T (LHCGR) XP_011531133.1:p.Leu322Phe
XM_011532832.1:c.670C>T (LHCGR) XP_011531134.1:p.Leu224Phe
XM_011532833.1:c.670C>T (LHCGR) XP_011531135.1:p.Leu224Phe
XM_011532834.1:c.643C>T (LHCGR) XP_011531136.1:p.Leu215Phe
XM_005264309.3:c.643C>T (LHCGR) XP_005264366.1:p.Leu215Phe
XM_006712015.3:c.670C>T (LHCGR) XP_006712078.1:p.Leu224Phe
XM_011532834.2:c.643C>T (LHCGR) XP_011531136.1:p.Leu215Phe
XM_017004089.1:c.1345C>T (LHCGR) XP_016859578.1:p.Leu449Phe
XM_017004090.1:c.964C>T (LHCGR) XP_016859579.1:p.Leu322Phe
NM_000233.4:c.1600C>T (LHCGR) MANE Select NP_000224.2:p.Leu534Phe
NM_001198593.2:c.3441+16517G>A (STON1-GTF2A1L) NP_001185522.1:n.3441+16517G>A