Canonical Allele Identifier: CA1653324
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.48723650C>T
GRCh37 chr2:g.48950789C>T
Revel Score:
ENST00000344775 0.303
ENST00000294954 (MANE Select) 0.303
ENST00000405626 0.303
ENST00000403273 0.303
ENST00000401907 0.303
ENST00000428232 0.303
gnomAD v2:
2:48950789 C / T
gnomAD v3:
2:48723650 C / T
gnomAD v4:
chr2-48723650-C-T
Joint Max Group AF 0.00070403 (NFE)
Genomes Max Group AF 0.00048158 (NFE)
Exomes Max Group AF 0.00070937 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48723650C>T , CM000664.2:g.48723650C>T GRCh38
NC_000002.11:g.48950789C>T , CM000664.1:g.48950789C>T GRCh37
NC_000002.10:g.48804293C>T NCBI36
NG_008193.1:g.37092G>A
NG_033050.1:g.198726C>T
NG_008193.2:g.37092G>A
NG_033050.2:g.198726C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.430G>A (LHCGR) MANE Select ENSP00000294954.6:p.Val144Ile
ENST00000294954.11:c.430G>A (LHCGR) ENSP00000294954.6:p.Val144Ile
ENST00000401907.5:c.430G>A (LHCGR) ENSP00000385406.1:p.Val144Ile
ENST00000402114.6:c.3441+51970C>T (STON1-GTF2A1L) ENSP00000385701.1:n.3441+51970C>T
ENST00000403273.5:c.430G>A (LHCGR) ENSP00000385847.1:p.Val144Ile
ENST00000405626.5:c.430G>A (LHCGR) ENSP00000386033.1:p.Val144Ile
ENST00000428232.2:c.328G>A (LHCGR) ENSP00000403748.1:p.Val110Ile
ENST00000508440.1:c.277-9243C>T (GTF2A1L) ENSP00000421474.1:n.277-9243C>T
ENST00000602369.3:c.355G>A ENSP00000473498.1:p.Val119Ile
NM_000233.3:c.430G>A (LHCGR) NP_000224.2:p.Val144Ile
NM_001198593.1:c.3441+51970C>T (STON1-GTF2A1L) NP_001185522.1:n.3441+51970C>T
XM_011532828.1:c.355G>A (LHCGR) XP_011531130.1:p.Val119Ile
XM_011532829.1:c.355G>A (LHCGR) XP_011531131.1:p.Val119Ile
XM_011532830.1:c.355G>A (LHCGR) XP_011531132.1:p.Val119Ile
XM_017004089.1:c.361G>A (LHCGR) XP_016859578.1:p.Val121Ile
NM_000233.4:c.430G>A (LHCGR) MANE Select NP_000224.2:p.Val144Ile
NM_001198593.2:c.3441+51970C>T (STON1-GTF2A1L) NP_001185522.1:n.3441+51970C>T
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