Canonical Allele Identifier: CA346750454
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688832G>A , CM000664.2:g.48688832G>A GRCh38
NC_000002.11:g.48915971G>A , CM000664.1:g.48915971G>A GRCh37
NC_000002.10:g.48769475G>A NCBI36
NG_008193.1:g.71910C>T
NG_033050.1:g.163908G>A
NG_008193.2:g.71910C>T
NG_033050.2:g.163908G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.965C>T (LHCGR) MANE Select ENSP00000294954.6:p.Ala322Val
ENST00000294954.11:c.965C>T (LHCGR) ENSP00000294954.6:p.Ala322Val
ENST00000401907.5:c.948-693C>T (LHCGR) ENSP00000385406.1:n.948-693C>T
ENST00000402114.6:c.3441+17152G>A (STON1-GTF2A1L) ENSP00000385701.1:n.3441+17152G>A
ENST00000403273.5:c.948-249C>T (LHCGR) ENSP00000385847.1:n.948-249C>T
ENST00000405626.5:c.884C>T (LHCGR) ENSP00000386033.1:p.Ala295Val
ENST00000508440.1:c.276+17152G>A (GTF2A1L) ENSP00000421474.1:n.276+17152G>A
ENST00000602369.3:c.*220+5392C>T ENSP00000473498.1:n.*220+5392C>T
NM_000233.3:c.965C>T (LHCGR) NP_000224.2:p.Ala322Val
NM_001198593.1:c.3441+17152G>A (STON1-GTF2A1L) NP_001185522.1:n.3441+17152G>A
XM_005264309.2:c.8C>T (LHCGR) XP_005264366.1:p.Ala3Val
XM_006712015.2:c.35C>T (LHCGR) XP_006712078.1:p.Ala12Val
XM_011532828.1:c.890C>T (LHCGR) XP_011531130.1:p.Ala297Val
XM_011532829.1:c.704C>T (LHCGR) XP_011531131.1:p.Ala235Val
XM_011532830.1:c.623C>T (LHCGR) XP_011531132.1:p.Ala208Val
XM_011532831.1:c.329C>T (LHCGR) XP_011531133.1:p.Ala110Val
XM_011532832.1:c.35C>T (LHCGR) XP_011531134.1:p.Ala12Val
XM_011532833.1:c.35C>T (LHCGR) XP_011531135.1:p.Ala12Val
XM_011532834.1:c.8C>T (LHCGR) XP_011531136.1:p.Ala3Val
XM_005264309.3:c.8C>T (LHCGR) XP_005264366.1:p.Ala3Val
XM_006712015.3:c.35C>T (LHCGR) XP_006712078.1:p.Ala12Val
XM_011532834.2:c.8C>T (LHCGR) XP_011531136.1:p.Ala3Val
XM_017004089.1:c.710C>T (LHCGR) XP_016859578.1:p.Ala237Val
XM_017004090.1:c.329C>T (LHCGR) XP_016859579.1:p.Ala110Val
NM_000233.4:c.965C>T (LHCGR) MANE Select NP_000224.2:p.Ala322Val
NM_001198593.2:c.3441+17152G>A (STON1-GTF2A1L) NP_001185522.1:n.3441+17152G>A