Canonical Allele Identifier: CA346749944
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688746T>C , CM000664.2:g.48688746T>C GRCh38
NC_000002.11:g.48915885T>C , CM000664.1:g.48915885T>C GRCh37
NC_000002.10:g.48769389T>C NCBI36
NG_008193.1:g.71996A>G
NG_033050.1:g.163822T>C
NG_008193.2:g.71996A>G
NG_033050.2:g.163822T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000294954.12:c.1051A>G (LHCGR) MANE Select ENSP00000294954.6:p.Asn351Asp
ENST00000294954.11:c.1051A>G (LHCGR) ENSP00000294954.6:p.Asn351Asp
ENST00000401907.5:c.948-607A>G (LHCGR) ENSP00000385406.1:n.948-607A>G
ENST00000402114.6:c.3441+17066T>C (STON1-GTF2A1L) ENSP00000385701.1:n.3441+17066T>C
ENST00000403273.5:c.948-163A>G (LHCGR) ENSP00000385847.1:n.948-163A>G
ENST00000405626.5:c.970A>G (LHCGR) ENSP00000386033.1:p.Asn324Asp
ENST00000508440.1:c.276+17066T>C (GTF2A1L) ENSP00000421474.1:n.276+17066T>C
ENST00000602369.3:c.*220+5478A>G ENSP00000473498.1:n.*220+5478A>G
NM_000233.3:c.1051A>G (LHCGR) NP_000224.2:p.Asn351Asp
NM_001198593.1:c.3441+17066T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+17066T>C
XM_005264309.2:c.94A>G (LHCGR) XP_005264366.1:p.Asn32Asp
XM_006712015.2:c.121A>G (LHCGR) XP_006712078.1:p.Asn41Asp
XM_011532828.1:c.976A>G (LHCGR) XP_011531130.1:p.Asn326Asp
XM_011532829.1:c.790A>G (LHCGR) XP_011531131.1:p.Asn264Asp
XM_011532830.1:c.709A>G (LHCGR) XP_011531132.1:p.Asn237Asp
XM_011532831.1:c.415A>G (LHCGR) XP_011531133.1:p.Asn139Asp
XM_011532832.1:c.121A>G (LHCGR) XP_011531134.1:p.Asn41Asp
XM_011532833.1:c.121A>G (LHCGR) XP_011531135.1:p.Asn41Asp
XM_011532834.1:c.94A>G (LHCGR) XP_011531136.1:p.Asn32Asp
XM_005264309.3:c.94A>G (LHCGR) XP_005264366.1:p.Asn32Asp
XM_006712015.3:c.121A>G (LHCGR) XP_006712078.1:p.Asn41Asp
XM_011532834.2:c.94A>G (LHCGR) XP_011531136.1:p.Asn32Asp
XM_017004089.1:c.796A>G (LHCGR) XP_016859578.1:p.Asn266Asp
XM_017004090.1:c.415A>G (LHCGR) XP_016859579.1:p.Asn139Asp
NM_000233.4:c.1051A>G (LHCGR) MANE Select NP_000224.2:p.Asn351Asp
NM_001198593.2:c.3441+17066T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+17066T>C