Canonical Allele Identifier: CA1653026

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs758209548
• ExAC: 2:48915488 G / A
• gnomAD v2: 2-48915488-G-A
• gnomAD v4: 2-48688349-G-A
• MyVariant Identifiers: chr2:g.48915488G>A (hg19) ; chr2:g.48688349G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688349G>A , CM000664.2:g.48688349G>A	GRCh38
NC_000002.11:g.48915488G>A , CM000664.1:g.48915488G>A	GRCh37
NC_000002.10:g.48768992G>A	NCBI36
NG_008193.1:g.72393C>T
NG_033050.1:g.163425G>A
NG_008193.2:g.72393C>T
NG_033050.2:g.163425G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1448C>T (LHCGR) MANE Select	ENSP00000294954.6:p.Ala483Val
ENST00000294954.11:c.1448C>T (LHCGR)	ENSP00000294954.6:p.Ala483Val
ENST00000401907.5:c.948-210C>T (LHCGR)	ENSP00000385406.1:n.948-210C>T
ENST00000402114.6:c.3441+16669G>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16669G>A
ENST00000403273.5:c.*192C>T (LHCGR)	ENSP00000385847.1:n.*192C>T
ENST00000405626.5:c.1367C>T (LHCGR)	ENSP00000386033.1:p.Ala456Val
ENST00000508440.1:c.276+16669G>A (GTF2A1L)	ENSP00000421474.1:n.276+16669G>A
ENST00000602369.3:c.*220+5875C>T	ENSP00000473498.1:n.*220+5875C>T
NM_000233.3:c.1448C>T (LHCGR)	NP_000224.2:p.Ala483Val
NM_001198593.1:c.3441+16669G>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16669G>A
XM_005264309.2:c.491C>T (LHCGR)	XP_005264366.1:p.Ala164Val
XM_006712015.2:c.518C>T (LHCGR)	XP_006712078.1:p.Ala173Val
XM_011532828.1:c.1373C>T (LHCGR)	XP_011531130.1:p.Ala458Val
XM_011532829.1:c.1187C>T (LHCGR)	XP_011531131.1:p.Ala396Val
XM_011532830.1:c.1106C>T (LHCGR)	XP_011531132.1:p.Ala369Val
XM_011532831.1:c.812C>T (LHCGR)	XP_011531133.1:p.Ala271Val
XM_011532832.1:c.518C>T (LHCGR)	XP_011531134.1:p.Ala173Val
XM_011532833.1:c.518C>T (LHCGR)	XP_011531135.1:p.Ala173Val
XM_011532834.1:c.491C>T (LHCGR)	XP_011531136.1:p.Ala164Val
XM_005264309.3:c.491C>T (LHCGR)	XP_005264366.1:p.Ala164Val
XM_006712015.3:c.518C>T (LHCGR)	XP_006712078.1:p.Ala173Val
XM_011532834.2:c.491C>T (LHCGR)	XP_011531136.1:p.Ala164Val
XM_017004089.1:c.1193C>T (LHCGR)	XP_016859578.1:p.Ala398Val
XM_017004090.1:c.812C>T (LHCGR)	XP_016859579.1:p.Ala271Val
NM_000233.4:c.1448C>T (LHCGR) MANE Select	NP_000224.2:p.Ala483Val
NM_001198593.2:c.3441+16669G>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16669G>A