Canonical Allele Identifier: CA1030380202
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

dbSNP Id: rs1667001790
gnomAD v3: 2-48694158-T-C
gnomAD v4: 2-48694158-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48694158T>C , CM000664.2:g.48694158T>C GRCh38
NC_000002.11:g.48921297T>C , CM000664.1:g.48921297T>C GRCh37
NC_000002.10:g.48774801T>C NCBI36
NG_008193.1:g.66584A>G
NG_033050.1:g.169234T>C
NG_008193.2:g.66584A>G
NG_033050.2:g.169234T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000294954.12:c.947+66A>G (LHCGR) MANE Select ENSP00000294954.6:n.947+66A>G
ENST00000294954.11:c.947+66A>G (LHCGR) ENSP00000294954.6:n.947+66A>G
ENST00000401907.5:c.947+66A>G (LHCGR) ENSP00000385406.1:n.947+66A>G
ENST00000402114.6:c.3441+22478T>C (STON1-GTF2A1L) ENSP00000385701.1:n.3441+22478T>C
ENST00000403273.5:c.947+66A>G (LHCGR) ENSP00000385847.1:n.947+66A>G
ENST00000405626.5:c.866+4457A>G (LHCGR) ENSP00000386033.1:n.866+4457A>G
ENST00000508440.1:c.276+22478T>C (GTF2A1L) ENSP00000421474.1:n.276+22478T>C
ENST00000602369.3:c.*220+66A>G ENSP00000473498.1:n.*220+66A>G
NM_000233.3:c.947+66A>G (LHCGR) NP_000224.2:n.947+66A>G
NM_001198593.1:c.3441+22478T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+22478T>C
XM_005264309.2:c.-11+83A>G (LHCGR) XP_005264366.1:n.-11+83A>G
XM_006712015.2:c.-894A>G (LHCGR) XP_006712078.1:n.-894A>G
XM_011532828.1:c.872+66A>G (LHCGR) XP_011531130.1:n.872+66A>G
XM_011532829.1:c.686+66A>G (LHCGR) XP_011531131.1:n.686+66A>G
XM_011532830.1:c.606-5309A>G (LHCGR) XP_011531132.1:n.606-5309A>G
XM_011532831.1:c.311+66A>G (LHCGR) XP_011531133.1:n.311+66A>G
XM_011532832.1:c.-461A>G (LHCGR) XP_011531134.1:n.-461A>G
XM_011532833.1:c.-457A>G (LHCGR) XP_011531135.1:n.-457A>G
XM_011532834.1:c.-263A>G (LHCGR) XP_011531136.1:n.-263A>G
XM_005264309.3:c.-11+83A>G (LHCGR) XP_005264366.1:n.-11+83A>G
XM_006712015.3:c.-894A>G (LHCGR) XP_006712078.1:n.-894A>G
XM_011532834.2:c.-263A>G (LHCGR) XP_011531136.1:n.-263A>G
XM_017004089.1:c.692+66A>G (LHCGR) XP_016859578.1:n.692+66A>G
XM_017004090.1:c.311+66A>G (LHCGR) XP_016859579.1:n.311+66A>G
NM_000233.4:c.947+66A>G (LHCGR) MANE Select NP_000224.2:n.947+66A>G
NM_001198593.2:c.3441+22478T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+22478T>C