Canonical Allele Identifier: CA346743159
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48687773T>C , CM000664.2:g.48687773T>C GRCh38
NC_000002.11:g.48914912T>C , CM000664.1:g.48914912T>C GRCh37
NC_000002.10:g.48768416T>C NCBI36
NG_008193.1:g.72969A>G
NG_033050.1:g.162849T>C
NG_008193.2:g.72969A>G
NG_033050.2:g.162849T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.2024A>G (LHCGR) MANE Select ENSP00000294954.6:p.Gln675Arg
ENST00000294954.11:c.2024A>G (LHCGR) ENSP00000294954.6:p.Gln675Arg
ENST00000401907.5:c.*336A>G (LHCGR) ENSP00000385406.1:n.*336A>G
ENST00000402114.6:c.3441+16093T>C (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16093T>C
ENST00000403273.5:c.*768A>G (LHCGR) ENSP00000385847.1:n.*768A>G
ENST00000405626.5:c.1943A>G (LHCGR) ENSP00000386033.1:p.Gln648Arg
ENST00000508440.1:c.276+16093T>C (GTF2A1L) ENSP00000421474.1:n.276+16093T>C
ENST00000602369.3:c.*220+6451A>G ENSP00000473498.1:n.*220+6451A>G
NM_000233.3:c.2024A>G (LHCGR) NP_000224.2:p.Gln675Arg
NM_001198593.1:c.3441+16093T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16093T>C
XM_005264309.2:c.1067A>G (LHCGR) XP_005264366.1:p.Gln356Arg
XM_006712015.2:c.1094A>G (LHCGR) XP_006712078.1:p.Gln365Arg
XM_011532828.1:c.1949A>G (LHCGR) XP_011531130.1:p.Gln650Arg
XM_011532829.1:c.1763A>G (LHCGR) XP_011531131.1:p.Gln588Arg
XM_011532830.1:c.1682A>G (LHCGR) XP_011531132.1:p.Gln561Arg
XM_011532831.1:c.1388A>G (LHCGR) XP_011531133.1:p.Gln463Arg
XM_011532832.1:c.1094A>G (LHCGR) XP_011531134.1:p.Gln365Arg
XM_011532833.1:c.1094A>G (LHCGR) XP_011531135.1:p.Gln365Arg
XM_011532834.1:c.1067A>G (LHCGR) XP_011531136.1:p.Gln356Arg
XM_005264309.3:c.1067A>G (LHCGR) XP_005264366.1:p.Gln356Arg
XM_006712015.3:c.1094A>G (LHCGR) XP_006712078.1:p.Gln365Arg
XM_011532834.2:c.1067A>G (LHCGR) XP_011531136.1:p.Gln356Arg
XM_017004089.1:c.1769A>G (LHCGR) XP_016859578.1:p.Gln590Arg
XM_017004090.1:c.1388A>G (LHCGR) XP_016859579.1:p.Gln463Arg
NM_000233.4:c.2024A>G (LHCGR) MANE Select NP_000224.2:p.Gln675Arg
NM_001198593.2:c.3441+16093T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16093T>C