Canonical Allele Identifier: CA346744061
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

gnomAD v4: 2-48687924-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48687924T>C , CM000664.2:g.48687924T>C GRCh38
NC_000002.11:g.48915063T>C , CM000664.1:g.48915063T>C GRCh37
NC_000002.10:g.48768567T>C NCBI36
NG_008193.1:g.72818A>G
NG_033050.1:g.163000T>C
NG_008193.2:g.72818A>G
NG_033050.2:g.163000T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1873A>G (LHCGR) MANE Select ENSP00000294954.6:p.Ile625Val
ENST00000294954.11:c.1873A>G (LHCGR) ENSP00000294954.6:p.Ile625Val
ENST00000401907.5:c.*185A>G (LHCGR) ENSP00000385406.1:n.*185A>G
ENST00000402114.6:c.3441+16244T>C (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16244T>C
ENST00000403273.5:c.*617A>G (LHCGR) ENSP00000385847.1:n.*617A>G
ENST00000405626.5:c.1792A>G (LHCGR) ENSP00000386033.1:p.Ile598Val
ENST00000508440.1:c.276+16244T>C (GTF2A1L) ENSP00000421474.1:n.276+16244T>C
ENST00000602369.3:c.*220+6300A>G ENSP00000473498.1:n.*220+6300A>G
NM_000233.3:c.1873A>G (LHCGR) NP_000224.2:p.Ile625Val
NM_001198593.1:c.3441+16244T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16244T>C
XM_005264309.2:c.916A>G (LHCGR) XP_005264366.1:p.Ile306Val
XM_006712015.2:c.943A>G (LHCGR) XP_006712078.1:p.Ile315Val
XM_011532828.1:c.1798A>G (LHCGR) XP_011531130.1:p.Ile600Val
XM_011532829.1:c.1612A>G (LHCGR) XP_011531131.1:p.Ile538Val
XM_011532830.1:c.1531A>G (LHCGR) XP_011531132.1:p.Ile511Val
XM_011532831.1:c.1237A>G (LHCGR) XP_011531133.1:p.Ile413Val
XM_011532832.1:c.943A>G (LHCGR) XP_011531134.1:p.Ile315Val
XM_011532833.1:c.943A>G (LHCGR) XP_011531135.1:p.Ile315Val
XM_011532834.1:c.916A>G (LHCGR) XP_011531136.1:p.Ile306Val
XM_005264309.3:c.916A>G (LHCGR) XP_005264366.1:p.Ile306Val
XM_006712015.3:c.943A>G (LHCGR) XP_006712078.1:p.Ile315Val
XM_011532834.2:c.916A>G (LHCGR) XP_011531136.1:p.Ile306Val
XM_017004089.1:c.1618A>G (LHCGR) XP_016859578.1:p.Ile540Val
XM_017004090.1:c.1237A>G (LHCGR) XP_016859579.1:p.Ile413Val
NM_000233.4:c.1873A>G (LHCGR) MANE Select NP_000224.2:p.Ile625Val
NM_001198593.2:c.3441+16244T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16244T>C