Canonical Allele Identifier: CA47295588

Gene: LHCGR STON1-GTF2A1L

Linked Data

• dbSNP Id: rs567424395
• gnomAD v3: 2-48755705-G-C
• gnomAD v4: 2-48755705-G-C
• MyVariant Identifiers: chr2:g.48982844G>C (hg19) ; chr2:g.48755705G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755705G>C , CM000664.2:g.48755705G>C	GRCh38
NC_000002.11:g.48982844G>C , CM000664.1:g.48982844G>C	GRCh37
NC_000002.10:g.48836348G>C	NCBI36
NG_008193.1:g.5037C>G
NG_033050.1:g.230781G>C
NG_008193.2:g.5037C>G
NG_033050.2:g.230781G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.-34C>G (LHCGR) MANE Select	ENSP00000294954.6:n.-34C>G
ENST00000401907.5:c.-34C>G (LHCGR)	ENSP00000385406.1:n.-34C>G
ENST00000402114.6:c.3442-20575G>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20575G>C
ENST00000403273.5:c.-34C>G (LHCGR)	ENSP00000385847.1:n.-34C>G
ENST00000602369.3:c.-34C>G	ENSP00000473498.1:n.-34C>G
NM_000233.3:c.-34C>G (LHCGR)	NP_000224.2:n.-34C>G
NM_001198593.1:c.3442-20575G>C (STON1-GTF2A1L)	NP_001185522.1:n.3442-20575G>C
XM_011532828.1:c.-34C>G (LHCGR)	XP_011531130.1:n.-34C>G
XM_011532829.1:c.-34C>G (LHCGR)	XP_011531131.1:n.-34C>G
XM_011532830.1:c.-34C>G (LHCGR)	XP_011531132.1:n.-34C>G
NM_000233.4:c.-34C>G (LHCGR) MANE Select	NP_000224.2:n.-34C>G
NM_001198593.2:c.3442-20575G>C (STON1-GTF2A1L)	NP_001185522.1:n.3442-20575G>C