Canonical Allele Identifier: CA46753515

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1029490793
• gnomAD v3: 2-48688852-G-C
• gnomAD v4: 2-48688852-G-C
• MyVariant Identifiers: chr2:g.48915991G>C (hg19) ; chr2:g.48688852G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688852G>C , CM000664.2:g.48688852G>C	GRCh38
NC_000002.11:g.48915991G>C , CM000664.1:g.48915991G>C	GRCh37
NC_000002.10:g.48769495G>C	NCBI36
NG_008193.1:g.71890C>G
NG_033050.1:g.163928G>C
NG_008193.2:g.71890C>G
NG_033050.2:g.163928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.948-3C>G (LHCGR) MANE Select	ENSP00000294954.6:n.948-3C>G
ENST00000294954.11:c.948-3C>G (LHCGR)	ENSP00000294954.6:n.948-3C>G
ENST00000401907.5:c.948-713C>G (LHCGR)	ENSP00000385406.1:n.948-713C>G
ENST00000402114.6:c.3441+17172G>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+17172G>C
ENST00000403273.5:c.948-269C>G (LHCGR)	ENSP00000385847.1:n.948-269C>G
ENST00000405626.5:c.867-3C>G (LHCGR)	ENSP00000386033.1:n.867-3C>G
ENST00000508440.1:c.276+17172G>C (GTF2A1L)	ENSP00000421474.1:n.276+17172G>C
ENST00000602369.3:c.*220+5372C>G	ENSP00000473498.1:n.*220+5372C>G
NM_000233.3:c.948-3C>G (LHCGR)	NP_000224.2:n.948-3C>G
NM_001198593.1:c.3441+17172G>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+17172G>C
XM_005264309.2:c.-10-3C>G (LHCGR)	XP_005264366.1:n.-10-3C>G
XM_006712015.2:c.18-3C>G (LHCGR)	XP_006712078.1:n.18-3C>G
XM_011532828.1:c.873-3C>G (LHCGR)	XP_011531130.1:n.873-3C>G
XM_011532829.1:c.687-3C>G (LHCGR)	XP_011531131.1:n.687-3C>G
XM_011532830.1:c.606-3C>G (LHCGR)	XP_011531132.1:n.606-3C>G
XM_011532831.1:c.312-3C>G (LHCGR)	XP_011531133.1:n.312-3C>G
XM_011532832.1:c.18-3C>G (LHCGR)	XP_011531134.1:n.18-3C>G
XM_011532833.1:c.18-3C>G (LHCGR)	XP_011531135.1:n.18-3C>G
XM_011532834.1:c.-10-3C>G (LHCGR)	XP_011531136.1:n.-10-3C>G
XM_005264309.3:c.-10-3C>G (LHCGR)	XP_005264366.1:n.-10-3C>G
XM_006712015.3:c.18-3C>G (LHCGR)	XP_006712078.1:n.18-3C>G
XM_011532834.2:c.-10-3C>G (LHCGR)	XP_011531136.1:n.-10-3C>G
XM_017004089.1:c.693-3C>G (LHCGR)	XP_016859578.1:n.693-3C>G
XM_017004090.1:c.312-3C>G (LHCGR)	XP_016859579.1:n.312-3C>G
NM_000233.4:c.948-3C>G (LHCGR) MANE Select	NP_000224.2:n.948-3C>G
NM_001198593.2:c.3441+17172G>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+17172G>C