Canonical Allele Identifier: CA250647
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

ClinVar Variation Id: 14391
dbSNP Id: rs121912523
gnomAD v2: 2-48915301-G-T
gnomAD v3: 2-48688162-G-T
gnomAD v4: 2-48688162-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688162G>T , CM000664.2:g.48688162G>T GRCh38
NC_000002.11:g.48915301G>T , CM000664.1:g.48915301G>T GRCh37
NC_000002.10:g.48768805G>T NCBI36
NG_008193.1:g.72580C>A
NG_033050.1:g.163238G>T
NG_008193.2:g.72580C>A
NG_033050.2:g.163238G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000294954.12:c.1635C>A (LHCGR) MANE Select ENSP00000294954.6:p.Cys545Ter
ENST00000294954.11:c.1635C>A (LHCGR) ENSP00000294954.6:p.Cys545Ter
ENST00000401907.5:c.948-23C>A (LHCGR) ENSP00000385406.1:n.948-23C>A
ENST00000402114.6:c.3441+16482G>T (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16482G>T
ENST00000403273.5:c.*379C>A (LHCGR) ENSP00000385847.1:n.*379C>A
ENST00000405626.5:c.1554C>A (LHCGR) ENSP00000386033.1:p.Cys518Ter
ENST00000508440.1:c.276+16482G>T (GTF2A1L) ENSP00000421474.1:n.276+16482G>T
ENST00000602369.3:c.*220+6062C>A ENSP00000473498.1:n.*220+6062C>A
NM_000233.3:c.1635C>A (LHCGR) NP_000224.2:p.Cys545Ter
NM_001198593.1:c.3441+16482G>T (STON1-GTF2A1L) NP_001185522.1:n.3441+16482G>T
XM_005264309.2:c.678C>A (LHCGR) XP_005264366.1:p.Cys226Ter
XM_006712015.2:c.705C>A (LHCGR) XP_006712078.1:p.Cys235Ter
XM_011532828.1:c.1560C>A (LHCGR) XP_011531130.1:p.Cys520Ter
XM_011532829.1:c.1374C>A (LHCGR) XP_011531131.1:p.Cys458Ter
XM_011532830.1:c.1293C>A (LHCGR) XP_011531132.1:p.Cys431Ter
XM_011532831.1:c.999C>A (LHCGR) XP_011531133.1:p.Cys333Ter
XM_011532832.1:c.705C>A (LHCGR) XP_011531134.1:p.Cys235Ter
XM_011532833.1:c.705C>A (LHCGR) XP_011531135.1:p.Cys235Ter
XM_011532834.1:c.678C>A (LHCGR) XP_011531136.1:p.Cys226Ter
XM_005264309.3:c.678C>A (LHCGR) XP_005264366.1:p.Cys226Ter
XM_006712015.3:c.705C>A (LHCGR) XP_006712078.1:p.Cys235Ter
XM_011532834.2:c.678C>A (LHCGR) XP_011531136.1:p.Cys226Ter
XM_017004089.1:c.1380C>A (LHCGR) XP_016859578.1:p.Cys460Ter
XM_017004090.1:c.999C>A (LHCGR) XP_016859579.1:p.Cys333Ter
NM_000233.4:c.1635C>A (LHCGR) MANE Select NP_000224.2:p.Cys545Ter
NM_001198593.2:c.3441+16482G>T (STON1-GTF2A1L) NP_001185522.1:n.3441+16482G>T