Canonical Allele Identifier: CA1248603932

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1558811052
• gnomAD v4: 2-48694176-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48694176C>T , CM000664.2:g.48694176C>T	GRCh38
NC_000002.11:g.48921315C>T , CM000664.1:g.48921315C>T	GRCh37
NC_000002.10:g.48774819C>T	NCBI36
NG_008193.1:g.66566G>A
NG_033050.1:g.169252C>T
NG_008193.2:g.66566G>A
NG_033050.2:g.169252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.947+48G>A (LHCGR) MANE Select	ENSP00000294954.6:n.947+48G>A
ENST00000294954.11:c.947+48G>A (LHCGR)	ENSP00000294954.6:n.947+48G>A
ENST00000401907.5:c.947+48G>A (LHCGR)	ENSP00000385406.1:n.947+48G>A
ENST00000402114.6:c.3441+22496C>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+22496C>T
ENST00000403273.5:c.947+48G>A (LHCGR)	ENSP00000385847.1:n.947+48G>A
ENST00000405626.5:c.866+4439G>A (LHCGR)	ENSP00000386033.1:n.866+4439G>A
ENST00000508440.1:c.276+22496C>T (GTF2A1L)	ENSP00000421474.1:n.276+22496C>T
ENST00000602369.3:c.*220+48G>A	ENSP00000473498.1:n.*220+48G>A
NM_000233.3:c.947+48G>A (LHCGR)	NP_000224.2:n.947+48G>A
NM_001198593.1:c.3441+22496C>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+22496C>T
XM_005264309.2:c.-11+65G>A (LHCGR)	XP_005264366.1:n.-11+65G>A
XM_006712015.2:c.-912G>A (LHCGR)	XP_006712078.1:n.-912G>A
XM_011532828.1:c.872+48G>A (LHCGR)	XP_011531130.1:n.872+48G>A
XM_011532829.1:c.686+48G>A (LHCGR)	XP_011531131.1:n.686+48G>A
XM_011532830.1:c.606-5327G>A (LHCGR)	XP_011531132.1:n.606-5327G>A
XM_011532831.1:c.311+48G>A (LHCGR)	XP_011531133.1:n.311+48G>A
XM_011532832.1:c.-479G>A (LHCGR)	XP_011531134.1:n.-479G>A
XM_011532833.1:c.-475G>A (LHCGR)	XP_011531135.1:n.-475G>A
XM_011532834.1:c.-281G>A (LHCGR)	XP_011531136.1:n.-281G>A
XM_005264309.3:c.-11+65G>A (LHCGR)	XP_005264366.1:n.-11+65G>A
XM_006712015.3:c.-912G>A (LHCGR)	XP_006712078.1:n.-912G>A
XM_011532834.2:c.-281G>A (LHCGR)	XP_011531136.1:n.-281G>A
XM_017004089.1:c.692+48G>A (LHCGR)	XP_016859578.1:n.692+48G>A
XM_017004090.1:c.311+48G>A (LHCGR)	XP_016859579.1:n.311+48G>A
NM_000233.4:c.947+48G>A (LHCGR) MANE Select	NP_000224.2:n.947+48G>A
NM_001198593.2:c.3441+22496C>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+22496C>T