Canonical Allele Identifier: CA346747216
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688427A>T , CM000664.2:g.48688427A>T GRCh38
NC_000002.11:g.48915566A>T , CM000664.1:g.48915566A>T GRCh37
NC_000002.10:g.48769070A>T NCBI36
NG_008193.1:g.72315T>A
NG_033050.1:g.163503A>T
NG_008193.2:g.72315T>A
NG_033050.2:g.163503A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000294954.12:c.1370T>A (LHCGR) MANE Select ENSP00000294954.6:p.Leu457His
ENST00000294954.11:c.1370T>A (LHCGR) ENSP00000294954.6:p.Leu457His
ENST00000401907.5:c.948-288T>A (LHCGR) ENSP00000385406.1:n.948-288T>A
ENST00000402114.6:c.3441+16747A>T (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16747A>T
ENST00000403273.5:c.*114T>A (LHCGR) ENSP00000385847.1:n.*114T>A
ENST00000405626.5:c.1289T>A (LHCGR) ENSP00000386033.1:p.Leu430His
ENST00000508440.1:c.276+16747A>T (GTF2A1L) ENSP00000421474.1:n.276+16747A>T
ENST00000602369.3:c.*220+5797T>A ENSP00000473498.1:n.*220+5797T>A
NM_000233.3:c.1370T>A (LHCGR) NP_000224.2:p.Leu457His
NM_001198593.1:c.3441+16747A>T (STON1-GTF2A1L) NP_001185522.1:n.3441+16747A>T
XM_005264309.2:c.413T>A (LHCGR) XP_005264366.1:p.Leu138His
XM_006712015.2:c.440T>A (LHCGR) XP_006712078.1:p.Leu147His
XM_011532828.1:c.1295T>A (LHCGR) XP_011531130.1:p.Leu432His
XM_011532829.1:c.1109T>A (LHCGR) XP_011531131.1:p.Leu370His
XM_011532830.1:c.1028T>A (LHCGR) XP_011531132.1:p.Leu343His
XM_011532831.1:c.734T>A (LHCGR) XP_011531133.1:p.Leu245His
XM_011532832.1:c.440T>A (LHCGR) XP_011531134.1:p.Leu147His
XM_011532833.1:c.440T>A (LHCGR) XP_011531135.1:p.Leu147His
XM_011532834.1:c.413T>A (LHCGR) XP_011531136.1:p.Leu138His
XM_005264309.3:c.413T>A (LHCGR) XP_005264366.1:p.Leu138His
XM_006712015.3:c.440T>A (LHCGR) XP_006712078.1:p.Leu147His
XM_011532834.2:c.413T>A (LHCGR) XP_011531136.1:p.Leu138His
XM_017004089.1:c.1115T>A (LHCGR) XP_016859578.1:p.Leu372His
XM_017004090.1:c.734T>A (LHCGR) XP_016859579.1:p.Leu245His
NM_000233.4:c.1370T>A (LHCGR) MANE Select NP_000224.2:p.Leu457His
NM_001198593.2:c.3441+16747A>T (STON1-GTF2A1L) NP_001185522.1:n.3441+16747A>T