Canonical Allele Identifier: CA346744474
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

gnomAD v4: 2-48688002-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688002T>C , CM000664.2:g.48688002T>C GRCh38
NC_000002.11:g.48915141T>C , CM000664.1:g.48915141T>C GRCh37
NC_000002.10:g.48768645T>C NCBI36
NG_008193.1:g.72740A>G
NG_033050.1:g.163078T>C
NG_008193.2:g.72740A>G
NG_033050.2:g.163078T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1795A>G (LHCGR) MANE Select ENSP00000294954.6:p.Ile599Val
ENST00000294954.11:c.1795A>G (LHCGR) ENSP00000294954.6:p.Ile599Val
ENST00000401907.5:c.*107A>G (LHCGR) ENSP00000385406.1:n.*107A>G
ENST00000402114.6:c.3441+16322T>C (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16322T>C
ENST00000403273.5:c.*539A>G (LHCGR) ENSP00000385847.1:n.*539A>G
ENST00000405626.5:c.1714A>G (LHCGR) ENSP00000386033.1:p.Ile572Val
ENST00000508440.1:c.276+16322T>C (GTF2A1L) ENSP00000421474.1:n.276+16322T>C
ENST00000602369.3:c.*220+6222A>G ENSP00000473498.1:n.*220+6222A>G
NM_000233.3:c.1795A>G (LHCGR) NP_000224.2:p.Ile599Val
NM_001198593.1:c.3441+16322T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16322T>C
XM_005264309.2:c.838A>G (LHCGR) XP_005264366.1:p.Ile280Val
XM_006712015.2:c.865A>G (LHCGR) XP_006712078.1:p.Ile289Val
XM_011532828.1:c.1720A>G (LHCGR) XP_011531130.1:p.Ile574Val
XM_011532829.1:c.1534A>G (LHCGR) XP_011531131.1:p.Ile512Val
XM_011532830.1:c.1453A>G (LHCGR) XP_011531132.1:p.Ile485Val
XM_011532831.1:c.1159A>G (LHCGR) XP_011531133.1:p.Ile387Val
XM_011532832.1:c.865A>G (LHCGR) XP_011531134.1:p.Ile289Val
XM_011532833.1:c.865A>G (LHCGR) XP_011531135.1:p.Ile289Val
XM_011532834.1:c.838A>G (LHCGR) XP_011531136.1:p.Ile280Val
XM_005264309.3:c.838A>G (LHCGR) XP_005264366.1:p.Ile280Val
XM_006712015.3:c.865A>G (LHCGR) XP_006712078.1:p.Ile289Val
XM_011532834.2:c.838A>G (LHCGR) XP_011531136.1:p.Ile280Val
XM_017004089.1:c.1540A>G (LHCGR) XP_016859578.1:p.Ile514Val
XM_017004090.1:c.1159A>G (LHCGR) XP_016859579.1:p.Ile387Val
NM_000233.4:c.1795A>G (LHCGR) MANE Select NP_000224.2:p.Ile599Val
NM_001198593.2:c.3441+16322T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16322T>C