Canonical Allele Identifier: CA1653039

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• ClinVar Variation Id: 2900589
• ClinVar RCV Id: RCV003737218
• dbSNP Id: rs776179025
• ExAC: 2:48915562 G / A
• gnomAD v2: 2-48915562-G-A
• gnomAD v4: 2-48688423-G-A
• COSMIC: COSM6010103
• MyVariant Identifiers: chr2:g.48915562G>A (hg19) ; chr2:g.48688423G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688423G>A , CM000664.2:g.48688423G>A	GRCh38
NC_000002.11:g.48915562G>A , CM000664.1:g.48915562G>A	GRCh37
NC_000002.10:g.48769066G>A	NCBI36
NG_008193.1:g.72319C>T
NG_033050.1:g.163499G>A
NG_008193.2:g.72319C>T
NG_033050.2:g.163499G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1374C>T (LHCGR) MANE Select	ENSP00000294954.6:p.Thr458=
ENST00000294954.11:c.1374C>T (LHCGR)	ENSP00000294954.6:p.Thr458=
ENST00000401907.5:c.948-284C>T (LHCGR)	ENSP00000385406.1:n.948-284C>T
ENST00000402114.6:c.3441+16743G>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16743G>A
ENST00000403273.5:c.*118C>T (LHCGR)	ENSP00000385847.1:n.*118C>T
ENST00000405626.5:c.1293C>T (LHCGR)	ENSP00000386033.1:p.Thr431=
ENST00000508440.1:c.276+16743G>A (GTF2A1L)	ENSP00000421474.1:n.276+16743G>A
ENST00000602369.3:c.*220+5801C>T	ENSP00000473498.1:n.*220+5801C>T
NM_000233.3:c.1374C>T (LHCGR)	NP_000224.2:p.Thr458=
NM_001198593.1:c.3441+16743G>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16743G>A
XM_005264309.2:c.417C>T (LHCGR)	XP_005264366.1:p.Thr139=
XM_006712015.2:c.444C>T (LHCGR)	XP_006712078.1:p.Thr148=
XM_011532828.1:c.1299C>T (LHCGR)	XP_011531130.1:p.Thr433=
XM_011532829.1:c.1113C>T (LHCGR)	XP_011531131.1:p.Thr371=
XM_011532830.1:c.1032C>T (LHCGR)	XP_011531132.1:p.Thr344=
XM_011532831.1:c.738C>T (LHCGR)	XP_011531133.1:p.Thr246=
XM_011532832.1:c.444C>T (LHCGR)	XP_011531134.1:p.Thr148=
XM_011532833.1:c.444C>T (LHCGR)	XP_011531135.1:p.Thr148=
XM_011532834.1:c.417C>T (LHCGR)	XP_011531136.1:p.Thr139=
XM_005264309.3:c.417C>T (LHCGR)	XP_005264366.1:p.Thr139=
XM_006712015.3:c.444C>T (LHCGR)	XP_006712078.1:p.Thr148=
XM_011532834.2:c.417C>T (LHCGR)	XP_011531136.1:p.Thr139=
XM_017004089.1:c.1119C>T (LHCGR)	XP_016859578.1:p.Thr373=
XM_017004090.1:c.738C>T (LHCGR)	XP_016859579.1:p.Thr246=
NM_000233.4:c.1374C>T (LHCGR) MANE Select	NP_000224.2:p.Thr458=
NM_001198593.2:c.3441+16743G>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16743G>A