Canonical Allele Identifier: CA2658992098

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• gnomAD v4: 2-48688861-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688861A>C , CM000664.2:g.48688861A>C	GRCh38
NC_000002.11:g.48916000A>C , CM000664.1:g.48916000A>C	GRCh37
NC_000002.10:g.48769504A>C	NCBI36
NG_008193.1:g.71881T>G
NG_033050.1:g.163937A>C
NG_008193.2:g.71881T>G
NG_033050.2:g.163937A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.948-12T>G (LHCGR) MANE Select	ENSP00000294954.6:n.948-12T>G
ENST00000294954.11:c.948-12T>G (LHCGR)	ENSP00000294954.6:n.948-12T>G
ENST00000401907.5:c.948-722T>G (LHCGR)	ENSP00000385406.1:n.948-722T>G
ENST00000402114.6:c.3441+17181A>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+17181A>C
ENST00000403273.5:c.948-278T>G (LHCGR)	ENSP00000385847.1:n.948-278T>G
ENST00000405626.5:c.867-12T>G (LHCGR)	ENSP00000386033.1:n.867-12T>G
ENST00000508440.1:c.276+17181A>C (GTF2A1L)	ENSP00000421474.1:n.276+17181A>C
ENST00000602369.3:c.*220+5363T>G	ENSP00000473498.1:n.*220+5363T>G
NM_000233.3:c.948-12T>G (LHCGR)	NP_000224.2:n.948-12T>G
NM_001198593.1:c.3441+17181A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+17181A>C
XM_005264309.2:c.-10-12T>G (LHCGR)	XP_005264366.1:n.-10-12T>G
XM_006712015.2:c.18-12T>G (LHCGR)	XP_006712078.1:n.18-12T>G
XM_011532828.1:c.873-12T>G (LHCGR)	XP_011531130.1:n.873-12T>G
XM_011532829.1:c.687-12T>G (LHCGR)	XP_011531131.1:n.687-12T>G
XM_011532830.1:c.606-12T>G (LHCGR)	XP_011531132.1:n.606-12T>G
XM_011532831.1:c.312-12T>G (LHCGR)	XP_011531133.1:n.312-12T>G
XM_011532832.1:c.18-12T>G (LHCGR)	XP_011531134.1:n.18-12T>G
XM_011532833.1:c.18-12T>G (LHCGR)	XP_011531135.1:n.18-12T>G
XM_011532834.1:c.-10-12T>G (LHCGR)	XP_011531136.1:n.-10-12T>G
XM_005264309.3:c.-10-12T>G (LHCGR)	XP_005264366.1:n.-10-12T>G
XM_006712015.3:c.18-12T>G (LHCGR)	XP_006712078.1:n.18-12T>G
XM_011532834.2:c.-10-12T>G (LHCGR)	XP_011531136.1:n.-10-12T>G
XM_017004089.1:c.693-12T>G (LHCGR)	XP_016859578.1:n.693-12T>G
XM_017004090.1:c.312-12T>G (LHCGR)	XP_016859579.1:n.312-12T>G
NM_000233.4:c.948-12T>G (LHCGR) MANE Select	NP_000224.2:n.948-12T>G
NM_001198593.2:c.3441+17181A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+17181A>C