Canonical Allele Identifier: CA346743738

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915013A>C (hg19) ; chr2:g.48687874A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687874A>C , CM000664.2:g.48687874A>C	GRCh38
NC_000002.11:g.48915013A>C , CM000664.1:g.48915013A>C	GRCh37
NC_000002.10:g.48768517A>C	NCBI36
NG_008193.1:g.72868T>G
NG_033050.1:g.162950A>C
NG_008193.2:g.72868T>G
NG_033050.2:g.162950A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1923T>G (LHCGR) MANE Select	ENSP00000294954.6:p.Phe641Leu
ENST00000294954.11:c.1923T>G (LHCGR)	ENSP00000294954.6:p.Phe641Leu
ENST00000401907.5:c.*235T>G (LHCGR)	ENSP00000385406.1:n.*235T>G
ENST00000402114.6:c.3441+16194A>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16194A>C
ENST00000403273.5:c.*667T>G (LHCGR)	ENSP00000385847.1:n.*667T>G
ENST00000405626.5:c.1842T>G (LHCGR)	ENSP00000386033.1:p.Phe614Leu
ENST00000508440.1:c.276+16194A>C (GTF2A1L)	ENSP00000421474.1:n.276+16194A>C
ENST00000602369.3:c.*220+6350T>G	ENSP00000473498.1:n.*220+6350T>G
NM_000233.3:c.1923T>G (LHCGR)	NP_000224.2:p.Phe641Leu
NM_001198593.1:c.3441+16194A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16194A>C
XM_005264309.2:c.966T>G (LHCGR)	XP_005264366.1:p.Phe322Leu
XM_006712015.2:c.993T>G (LHCGR)	XP_006712078.1:p.Phe331Leu
XM_011532828.1:c.1848T>G (LHCGR)	XP_011531130.1:p.Phe616Leu
XM_011532829.1:c.1662T>G (LHCGR)	XP_011531131.1:p.Phe554Leu
XM_011532830.1:c.1581T>G (LHCGR)	XP_011531132.1:p.Phe527Leu
XM_011532831.1:c.1287T>G (LHCGR)	XP_011531133.1:p.Phe429Leu
XM_011532832.1:c.993T>G (LHCGR)	XP_011531134.1:p.Phe331Leu
XM_011532833.1:c.993T>G (LHCGR)	XP_011531135.1:p.Phe331Leu
XM_011532834.1:c.966T>G (LHCGR)	XP_011531136.1:p.Phe322Leu
XM_005264309.3:c.966T>G (LHCGR)	XP_005264366.1:p.Phe322Leu
XM_006712015.3:c.993T>G (LHCGR)	XP_006712078.1:p.Phe331Leu
XM_011532834.2:c.966T>G (LHCGR)	XP_011531136.1:p.Phe322Leu
XM_017004089.1:c.1668T>G (LHCGR)	XP_016859578.1:p.Phe556Leu
XM_017004090.1:c.1287T>G (LHCGR)	XP_016859579.1:p.Phe429Leu
NM_000233.4:c.1923T>G (LHCGR) MANE Select	NP_000224.2:p.Phe641Leu
NM_001198593.2:c.3441+16194A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16194A>C