Canonical Allele Identifier: CA346747028
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688383T>A , CM000664.2:g.48688383T>A GRCh38
NC_000002.11:g.48915522T>A , CM000664.1:g.48915522T>A GRCh37
NC_000002.10:g.48769026T>A NCBI36
NG_008193.1:g.72359A>T
NG_033050.1:g.163459T>A
NG_008193.2:g.72359A>T
NG_033050.2:g.163459T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1414A>T (LHCGR) MANE Select ENSP00000294954.6:p.Ile472Phe
ENST00000294954.11:c.1414A>T (LHCGR) ENSP00000294954.6:p.Ile472Phe
ENST00000401907.5:c.948-244A>T (LHCGR) ENSP00000385406.1:n.948-244A>T
ENST00000402114.6:c.3441+16703T>A (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16703T>A
ENST00000403273.5:c.*158A>T (LHCGR) ENSP00000385847.1:n.*158A>T
ENST00000405626.5:c.1333A>T (LHCGR) ENSP00000386033.1:p.Ile445Phe
ENST00000508440.1:c.276+16703T>A (GTF2A1L) ENSP00000421474.1:n.276+16703T>A
ENST00000602369.3:c.*220+5841A>T ENSP00000473498.1:n.*220+5841A>T
NM_000233.3:c.1414A>T (LHCGR) NP_000224.2:p.Ile472Phe
NM_001198593.1:c.3441+16703T>A (STON1-GTF2A1L) NP_001185522.1:n.3441+16703T>A
XM_005264309.2:c.457A>T (LHCGR) XP_005264366.1:p.Ile153Phe
XM_006712015.2:c.484A>T (LHCGR) XP_006712078.1:p.Ile162Phe
XM_011532828.1:c.1339A>T (LHCGR) XP_011531130.1:p.Ile447Phe
XM_011532829.1:c.1153A>T (LHCGR) XP_011531131.1:p.Ile385Phe
XM_011532830.1:c.1072A>T (LHCGR) XP_011531132.1:p.Ile358Phe
XM_011532831.1:c.778A>T (LHCGR) XP_011531133.1:p.Ile260Phe
XM_011532832.1:c.484A>T (LHCGR) XP_011531134.1:p.Ile162Phe
XM_011532833.1:c.484A>T (LHCGR) XP_011531135.1:p.Ile162Phe
XM_011532834.1:c.457A>T (LHCGR) XP_011531136.1:p.Ile153Phe
XM_005264309.3:c.457A>T (LHCGR) XP_005264366.1:p.Ile153Phe
XM_006712015.3:c.484A>T (LHCGR) XP_006712078.1:p.Ile162Phe
XM_011532834.2:c.457A>T (LHCGR) XP_011531136.1:p.Ile153Phe
XM_017004089.1:c.1159A>T (LHCGR) XP_016859578.1:p.Ile387Phe
XM_017004090.1:c.778A>T (LHCGR) XP_016859579.1:p.Ile260Phe
NM_000233.4:c.1414A>T (LHCGR) MANE Select NP_000224.2:p.Ile472Phe
NM_001198593.2:c.3441+16703T>A (STON1-GTF2A1L) NP_001185522.1:n.3441+16703T>A