Canonical Allele Identifier: CA346745757
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

gnomAD v4: 2-48688173-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688173T>C , CM000664.2:g.48688173T>C GRCh38
NC_000002.11:g.48915312T>C , CM000664.1:g.48915312T>C GRCh37
NC_000002.10:g.48768816T>C NCBI36
NG_008193.1:g.72569A>G
NG_033050.1:g.163249T>C
NG_008193.2:g.72569A>G
NG_033050.2:g.163249T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1624A>G (LHCGR) MANE Select ENSP00000294954.6:p.Ile542Val
ENST00000294954.11:c.1624A>G (LHCGR) ENSP00000294954.6:p.Ile542Val
ENST00000401907.5:c.948-34A>G (LHCGR) ENSP00000385406.1:n.948-34A>G
ENST00000402114.6:c.3441+16493T>C (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16493T>C
ENST00000403273.5:c.*368A>G (LHCGR) ENSP00000385847.1:n.*368A>G
ENST00000405626.5:c.1543A>G (LHCGR) ENSP00000386033.1:p.Ile515Val
ENST00000508440.1:c.276+16493T>C (GTF2A1L) ENSP00000421474.1:n.276+16493T>C
ENST00000602369.3:c.*220+6051A>G ENSP00000473498.1:n.*220+6051A>G
NM_000233.3:c.1624A>G (LHCGR) NP_000224.2:p.Ile542Val
NM_001198593.1:c.3441+16493T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16493T>C
XM_005264309.2:c.667A>G (LHCGR) XP_005264366.1:p.Ile223Val
XM_006712015.2:c.694A>G (LHCGR) XP_006712078.1:p.Ile232Val
XM_011532828.1:c.1549A>G (LHCGR) XP_011531130.1:p.Ile517Val
XM_011532829.1:c.1363A>G (LHCGR) XP_011531131.1:p.Ile455Val
XM_011532830.1:c.1282A>G (LHCGR) XP_011531132.1:p.Ile428Val
XM_011532831.1:c.988A>G (LHCGR) XP_011531133.1:p.Ile330Val
XM_011532832.1:c.694A>G (LHCGR) XP_011531134.1:p.Ile232Val
XM_011532833.1:c.694A>G (LHCGR) XP_011531135.1:p.Ile232Val
XM_011532834.1:c.667A>G (LHCGR) XP_011531136.1:p.Ile223Val
XM_005264309.3:c.667A>G (LHCGR) XP_005264366.1:p.Ile223Val
XM_006712015.3:c.694A>G (LHCGR) XP_006712078.1:p.Ile232Val
XM_011532834.2:c.667A>G (LHCGR) XP_011531136.1:p.Ile223Val
XM_017004089.1:c.1369A>G (LHCGR) XP_016859578.1:p.Ile457Val
XM_017004090.1:c.988A>G (LHCGR) XP_016859579.1:p.Ile330Val
NM_000233.4:c.1624A>G (LHCGR) MANE Select NP_000224.2:p.Ile542Val
NM_001198593.2:c.3441+16493T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16493T>C