Canonical Allele Identifier: CA346750391

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• gnomAD v4: 2-48688821-G-C
• MyVariant Identifiers: chr2:g.48915960G>C (hg19) ; chr2:g.48688821G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688821G>C , CM000664.2:g.48688821G>C	GRCh38
NC_000002.11:g.48915960G>C , CM000664.1:g.48915960G>C	GRCh37
NC_000002.10:g.48769464G>C	NCBI36
NG_008193.1:g.71921C>G
NG_033050.1:g.163897G>C
NG_008193.2:g.71921C>G
NG_033050.2:g.163897G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.976C>G (LHCGR) MANE Select	ENSP00000294954.6:p.Leu326Val
ENST00000294954.11:c.976C>G (LHCGR)	ENSP00000294954.6:p.Leu326Val
ENST00000401907.5:c.948-682C>G (LHCGR)	ENSP00000385406.1:n.948-682C>G
ENST00000402114.6:c.3441+17141G>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+17141G>C
ENST00000403273.5:c.948-238C>G (LHCGR)	ENSP00000385847.1:n.948-238C>G
ENST00000405626.5:c.895C>G (LHCGR)	ENSP00000386033.1:p.Leu299Val
ENST00000508440.1:c.276+17141G>C (GTF2A1L)	ENSP00000421474.1:n.276+17141G>C
ENST00000602369.3:c.*220+5403C>G	ENSP00000473498.1:n.*220+5403C>G
NM_000233.3:c.976C>G (LHCGR)	NP_000224.2:p.Leu326Val
NM_001198593.1:c.3441+17141G>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+17141G>C
XM_005264309.2:c.19C>G (LHCGR)	XP_005264366.1:p.Leu7Val
XM_006712015.2:c.46C>G (LHCGR)	XP_006712078.1:p.Leu16Val
XM_011532828.1:c.901C>G (LHCGR)	XP_011531130.1:p.Leu301Val
XM_011532829.1:c.715C>G (LHCGR)	XP_011531131.1:p.Leu239Val
XM_011532830.1:c.634C>G (LHCGR)	XP_011531132.1:p.Leu212Val
XM_011532831.1:c.340C>G (LHCGR)	XP_011531133.1:p.Leu114Val
XM_011532832.1:c.46C>G (LHCGR)	XP_011531134.1:p.Leu16Val
XM_011532833.1:c.46C>G (LHCGR)	XP_011531135.1:p.Leu16Val
XM_011532834.1:c.19C>G (LHCGR)	XP_011531136.1:p.Leu7Val
XM_005264309.3:c.19C>G (LHCGR)	XP_005264366.1:p.Leu7Val
XM_006712015.3:c.46C>G (LHCGR)	XP_006712078.1:p.Leu16Val
XM_011532834.2:c.19C>G (LHCGR)	XP_011531136.1:p.Leu7Val
XM_017004089.1:c.721C>G (LHCGR)	XP_016859578.1:p.Leu241Val
XM_017004090.1:c.340C>G (LHCGR)	XP_016859579.1:p.Leu114Val
NM_000233.4:c.976C>G (LHCGR) MANE Select	NP_000224.2:p.Leu326Val
NM_001198593.2:c.3441+17141G>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+17141G>C