Canonical Allele Identifier: CA1248601303
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688853T= , CM000664.2:g.48688853T= GRCh38
NC_000002.11:g.48915992T= , CM000664.1:g.48915992T= GRCh37
NC_000002.10:g.48769496T= NCBI36
NG_008193.1:g.71889A=
NG_033050.1:g.163929T=
NG_008193.2:g.71889A=
NG_033050.2:g.163929T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.948-4A= (LHCGR) MANE Select ENSP00000294954.6:n.948-4A=
ENST00000294954.11:c.948-4A= (LHCGR) ENSP00000294954.6:n.948-4A=
ENST00000401907.5:c.948-714A= (LHCGR) ENSP00000385406.1:n.948-714A=
ENST00000402114.6:c.3441+17173T= (STON1-GTF2A1L) ENSP00000385701.1:n.3441+17173T=
ENST00000403273.5:c.948-270A= (LHCGR) ENSP00000385847.1:n.948-270A=
ENST00000405626.5:c.867-4A= (LHCGR) ENSP00000386033.1:n.867-4A=
ENST00000508440.1:c.276+17173T= (GTF2A1L) ENSP00000421474.1:n.276+17173T=
ENST00000602369.3:c.*220+5371A= ENSP00000473498.1:n.*220+5371A=
NM_000233.3:c.948-4A= (LHCGR) NP_000224.2:n.948-4A=
NM_001198593.1:c.3441+17173T= (STON1-GTF2A1L) NP_001185522.1:n.3441+17173T=
XM_005264309.2:c.-10-4A= (LHCGR) XP_005264366.1:n.-10-4A=
XM_006712015.2:c.18-4A= (LHCGR) XP_006712078.1:n.18-4A=
XM_011532828.1:c.873-4A= (LHCGR) XP_011531130.1:n.873-4A=
XM_011532829.1:c.687-4A= (LHCGR) XP_011531131.1:n.687-4A=
XM_011532830.1:c.606-4A= (LHCGR) XP_011531132.1:n.606-4A=
XM_011532831.1:c.312-4A= (LHCGR) XP_011531133.1:n.312-4A=
XM_011532832.1:c.18-4A= (LHCGR) XP_011531134.1:n.18-4A=
XM_011532833.1:c.18-4A= (LHCGR) XP_011531135.1:n.18-4A=
XM_011532834.1:c.-10-4A= (LHCGR) XP_011531136.1:n.-10-4A=
XM_005264309.3:c.-10-4A= (LHCGR) XP_005264366.1:n.-10-4A=
XM_006712015.3:c.18-4A= (LHCGR) XP_006712078.1:n.18-4A=
XM_011532834.2:c.-10-4A= (LHCGR) XP_011531136.1:n.-10-4A=
XM_017004089.1:c.693-4A= (LHCGR) XP_016859578.1:n.693-4A=
XM_017004090.1:c.312-4A= (LHCGR) XP_016859579.1:n.312-4A=
NM_000233.4:c.948-4A= (LHCGR) MANE Select NP_000224.2:n.948-4A=
NM_001198593.2:c.3441+17173T= (STON1-GTF2A1L) NP_001185522.1:n.3441+17173T=