Canonical Allele Identifier: CA346747214

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• gnomAD v4: 2-48688425-T-C
• MyVariant Identifiers: chr2:g.48915564T>C (hg19) ; chr2:g.48688425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688425T>C , CM000664.2:g.48688425T>C	GRCh38
NC_000002.11:g.48915564T>C , CM000664.1:g.48915564T>C	GRCh37
NC_000002.10:g.48769068T>C	NCBI36
NG_008193.1:g.72317A>G
NG_033050.1:g.163501T>C
NG_008193.2:g.72317A>G
NG_033050.2:g.163501T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1372A>G (LHCGR) MANE Select	ENSP00000294954.6:p.Thr458Ala
ENST00000294954.11:c.1372A>G (LHCGR)	ENSP00000294954.6:p.Thr458Ala
ENST00000401907.5:c.948-286A>G (LHCGR)	ENSP00000385406.1:n.948-286A>G
ENST00000402114.6:c.3441+16745T>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16745T>C
ENST00000403273.5:c.*116A>G (LHCGR)	ENSP00000385847.1:n.*116A>G
ENST00000405626.5:c.1291A>G (LHCGR)	ENSP00000386033.1:p.Thr431Ala
ENST00000508440.1:c.276+16745T>C (GTF2A1L)	ENSP00000421474.1:n.276+16745T>C
ENST00000602369.3:c.*220+5799A>G	ENSP00000473498.1:n.*220+5799A>G
NM_000233.3:c.1372A>G (LHCGR)	NP_000224.2:p.Thr458Ala
NM_001198593.1:c.3441+16745T>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16745T>C
XM_005264309.2:c.415A>G (LHCGR)	XP_005264366.1:p.Thr139Ala
XM_006712015.2:c.442A>G (LHCGR)	XP_006712078.1:p.Thr148Ala
XM_011532828.1:c.1297A>G (LHCGR)	XP_011531130.1:p.Thr433Ala
XM_011532829.1:c.1111A>G (LHCGR)	XP_011531131.1:p.Thr371Ala
XM_011532830.1:c.1030A>G (LHCGR)	XP_011531132.1:p.Thr344Ala
XM_011532831.1:c.736A>G (LHCGR)	XP_011531133.1:p.Thr246Ala
XM_011532832.1:c.442A>G (LHCGR)	XP_011531134.1:p.Thr148Ala
XM_011532833.1:c.442A>G (LHCGR)	XP_011531135.1:p.Thr148Ala
XM_011532834.1:c.415A>G (LHCGR)	XP_011531136.1:p.Thr139Ala
XM_005264309.3:c.415A>G (LHCGR)	XP_005264366.1:p.Thr139Ala
XM_006712015.3:c.442A>G (LHCGR)	XP_006712078.1:p.Thr148Ala
XM_011532834.2:c.415A>G (LHCGR)	XP_011531136.1:p.Thr139Ala
XM_017004089.1:c.1117A>G (LHCGR)	XP_016859578.1:p.Thr373Ala
XM_017004090.1:c.736A>G (LHCGR)	XP_016859579.1:p.Thr246Ala
NM_000233.4:c.1372A>G (LHCGR) MANE Select	NP_000224.2:p.Thr458Ala
NM_001198593.2:c.3441+16745T>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16745T>C