Canonical Allele Identifier: CA2576963448

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• gnomAD v4: 2-48687630-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687630A>T , CM000664.2:g.48687630A>T	GRCh38
NC_000002.11:g.48914769A>T , CM000664.1:g.48914769A>T	GRCh37
NC_000002.10:g.48768273A>T	NCBI36
NG_008193.1:g.73112T>A
NG_033050.1:g.162706A>T
NG_008193.2:g.73112T>A
NG_033050.2:g.162706A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.*67T>A (LHCGR) MANE Select	ENSP00000294954.6:n.*67T>A
ENST00000294954.11:c.*67T>A (LHCGR)	ENSP00000294954.6:n.*67T>A
ENST00000402114.6:c.3441+15950A>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+15950A>T
ENST00000508440.1:c.276+15950A>T (GTF2A1L)	ENSP00000421474.1:n.276+15950A>T
ENST00000602369.3:c.*220+6594T>A	ENSP00000473498.1:n.*220+6594T>A
NM_000233.3:c.*67T>A (LHCGR)	NP_000224.2:n.*67T>A
NM_001198593.1:c.3441+15950A>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+15950A>T
XM_005264309.2:c.*67T>A (LHCGR)	XP_005264366.1:n.*67T>A
XM_006712015.2:c.*67T>A (LHCGR)	XP_006712078.1:n.*67T>A
XM_011532828.1:c.*67T>A (LHCGR)	XP_011531130.1:n.*67T>A
XM_011532829.1:c.*67T>A (LHCGR)	XP_011531131.1:n.*67T>A
XM_011532830.1:c.*67T>A (LHCGR)	XP_011531132.1:n.*67T>A
XM_011532831.1:c.*67T>A (LHCGR)	XP_011531133.1:n.*67T>A
XM_011532832.1:c.*67T>A (LHCGR)	XP_011531134.1:n.*67T>A
XM_011532833.1:c.*67T>A (LHCGR)	XP_011531135.1:n.*67T>A
XM_011532834.1:c.*67T>A (LHCGR)	XP_011531136.1:n.*67T>A
XM_005264309.3:c.*67T>A (LHCGR)	XP_005264366.1:n.*67T>A
XM_006712015.3:c.*67T>A (LHCGR)	XP_006712078.1:n.*67T>A
XM_011532834.2:c.*67T>A (LHCGR)	XP_011531136.1:n.*67T>A
XM_017004089.1:c.*67T>A (LHCGR)	XP_016859578.1:n.*67T>A
XM_017004090.1:c.*67T>A (LHCGR)	XP_016859579.1:n.*67T>A
NM_000233.4:c.*67T>A (LHCGR) MANE Select	NP_000224.2:n.*67T>A
NM_001198593.2:c.3441+15950A>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+15950A>T