Canonical Allele Identifier: CA346748720

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1311619299
• MyVariant Identifiers: chr2:g.48915729A>T (hg19) ; chr2:g.48688590A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688590A>T , CM000664.2:g.48688590A>T	GRCh38
NC_000002.11:g.48915729A>T , CM000664.1:g.48915729A>T	GRCh37
NC_000002.10:g.48769233A>T	NCBI36
NG_008193.1:g.72152T>A
NG_033050.1:g.163666A>T
NG_008193.2:g.72152T>A
NG_033050.2:g.163666A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1207T>A (LHCGR) MANE Select	ENSP00000294954.6:p.Phe403Ile
ENST00000294954.11:c.1207T>A (LHCGR)	ENSP00000294954.6:p.Phe403Ile
ENST00000401907.5:c.948-451T>A (LHCGR)	ENSP00000385406.1:n.948-451T>A
ENST00000402114.6:c.3441+16910A>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16910A>T
ENST00000403273.5:c.948-7T>A (LHCGR)	ENSP00000385847.1:n.948-7T>A
ENST00000405626.5:c.1126T>A (LHCGR)	ENSP00000386033.1:p.Phe376Ile
ENST00000508440.1:c.276+16910A>T (GTF2A1L)	ENSP00000421474.1:n.276+16910A>T
ENST00000602369.3:c.*220+5634T>A	ENSP00000473498.1:n.*220+5634T>A
NM_000233.3:c.1207T>A (LHCGR)	NP_000224.2:p.Phe403Ile
NM_001198593.1:c.3441+16910A>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16910A>T
XM_005264309.2:c.250T>A (LHCGR)	XP_005264366.1:p.Phe84Ile
XM_006712015.2:c.277T>A (LHCGR)	XP_006712078.1:p.Phe93Ile
XM_011532828.1:c.1132T>A (LHCGR)	XP_011531130.1:p.Phe378Ile
XM_011532829.1:c.946T>A (LHCGR)	XP_011531131.1:p.Phe316Ile
XM_011532830.1:c.865T>A (LHCGR)	XP_011531132.1:p.Phe289Ile
XM_011532831.1:c.571T>A (LHCGR)	XP_011531133.1:p.Phe191Ile
XM_011532832.1:c.277T>A (LHCGR)	XP_011531134.1:p.Phe93Ile
XM_011532833.1:c.277T>A (LHCGR)	XP_011531135.1:p.Phe93Ile
XM_011532834.1:c.250T>A (LHCGR)	XP_011531136.1:p.Phe84Ile
XM_005264309.3:c.250T>A (LHCGR)	XP_005264366.1:p.Phe84Ile
XM_006712015.3:c.277T>A (LHCGR)	XP_006712078.1:p.Phe93Ile
XM_011532834.2:c.250T>A (LHCGR)	XP_011531136.1:p.Phe84Ile
XM_017004089.1:c.952T>A (LHCGR)	XP_016859578.1:p.Phe318Ile
XM_017004090.1:c.571T>A (LHCGR)	XP_016859579.1:p.Phe191Ile
NM_000233.4:c.1207T>A (LHCGR) MANE Select	NP_000224.2:p.Phe403Ile
NM_001198593.2:c.3441+16910A>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16910A>T