Canonical Allele Identifier: CA1653498
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs4539842

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755625A>T , CM000664.2:g.48755625A>T GRCh38
NC_000002.11:g.48982764A>T , CM000664.1:g.48982764A>T GRCh37
NC_000002.10:g.48836268A>T NCBI36
NG_008193.1:g.5117T>A
NG_033050.1:g.230701A>T
NG_008193.2:g.5117T>A
NG_033050.2:g.230701A>T

Transcript Alleles

HGVS Amino-acid change
NM_000233.3:c.47T>A (LHCGR) VV NP_000224.2:p.Leu16Gln
NM_001198593.1:c.3442-20655A>T (STON1-GTF2A1L) VV NP_001185522.1:p.=
XM_011532828.1:c.47T>A (LHCGR) XP_011531130.1:p.Leu16Gln
XM_011532829.1:c.47T>A (LHCGR) XP_011531131.1:p.Leu16Gln
XM_011532830.1:c.47T>A (LHCGR) XP_011531132.1:p.Leu16Gln
NM_000233.4:c.47T>A (LHCGR) VV NP_000224.2:p.Leu16Gln
ENST00000294954.11:c.47T>A ENSP00000294954.6:p.Leu16Gln
ENST00000401907.5:c.47T>A ENSP00000385406.1:p.Leu16Gln
ENST00000402114.6:c.3442-20655A>T ENSP00000385701.1:p.=
ENST00000403273.5:c.47T>A ENSP00000385847.1:p.Leu16Gln
ENST00000405626.5:n.47T>A ENSP00000386033.1:p.Leu16Gln
ENST00000602369.3:c.47T>A ENSP00000473498.1:p.Leu16Gln