Canonical Allele Identifier: CA358564180

Gene: RXFP1

Linked Data

• gnomAD v4: 4-158645123-A-G
• MyVariant Identifiers: chr4:g.159566275A>G (hg19) ; chr4:g.158645123A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158645123A>G , CM000666.2:g.158645123A>G	GRCh38
NC_000004.11:g.159566275A>G , CM000666.1:g.159566275A>G	GRCh37
NC_000004.10:g.159785725A>G	NCBI36
NG_031835.1:g.128410A>G
NG_031835.2:g.128410A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307765.10:c.1330A>G MANE Select	ENSP00000303248.5:p.Ile444Val
ENST00000307765.9:c.1330A>G	ENSP00000303248.5:p.Ile444Val
ENST00000342048.9:c.*940A>G	ENSP00000432036.1:n.*940A>G
ENST00000343542.9:c.1186A>G	ENSP00000345889.5:p.Ile396Val
ENST00000423548.5:c.1411A>G	ENSP00000405841.2:p.Ile471Val
ENST00000448688.6:c.862A>G	ENSP00000414885.3:p.Ile288Val
ENST00000460056.6:c.1087A>G	ENSP00000423306.1:p.Ile363Val
ENST00000470033.2:c.1231A>G	ENSP00000420712.1:p.Ile411Val
ENST00000471616.5:c.1383A>G	ENSP00000434475.1:n.1383A>G
ENST00000613319.4:c.937A>G	ENSP00000480522.1:p.Ile313Val
NM_001253727.1:c.1411A>G	NP_001240656.1:p.Ile471Val
NM_001253728.1:c.1231A>G	NP_001240657.1:p.Ile411Val
NM_001253729.1:c.1186A>G	NP_001240658.1:p.Ile396Val
NM_001253730.1:c.937A>G	NP_001240659.1:p.Ile313Val
NM_001253732.1:c.934A>G	NP_001240661.1:p.Ile312Val
NM_001253733.1:c.862A>G	NP_001240662.1:p.Ile288Val
NM_021634.3:c.1330A>G	NP_067647.2:p.Ile444Val
NR_045579.1:n.2210A>G
NR_045580.1:n.1646A>G
NR_045581.1:n.1617A>G
NR_045582.1:n.1554A>G
NR_045583.1:n.1533A>G
NR_045584.1:n.1646A>G
XM_011532174.1:c.1408A>G	XP_011530476.1:p.Ile470Val
XM_011532175.1:c.1339A>G	XP_011530477.1:p.Ile447Val
XM_011532176.1:c.1258A>G	XP_011530478.1:p.Ile420Val
XM_011532177.1:c.1168A>G	XP_011530479.1:p.Ile390Val
XM_011532178.1:c.1168A>G	XP_011530480.1:p.Ile390Val
XM_011532179.1:c.1196+5792A>G	XP_011530481.1:n.1196+5792A>G
NM_001363776.1:c.1087A>G	NP_001350705.1:p.Ile363Val
XM_011532176.2:c.1258A>G	XP_011530478.1:p.Ile420Val
XM_011532179.2:c.1196+5792A>G	XP_011530481.1:n.1196+5792A>G
XM_017008517.1:c.1336A>G	XP_016864006.1:p.Ile446Val
XM_017008518.2:c.1327A>G	XP_016864007.1:p.Ile443Val
XM_017008519.1:c.1168A>G	XP_016864008.1:p.Ile390Val
XM_017008520.1:c.1168A>G	XP_016864009.1:p.Ile390Val
XM_017008522.1:c.1084A>G	XP_016864011.1:p.Ile362Val
XM_017008523.2:c.1115+5792A>G	XP_016864012.1:n.1115+5792A>G
XM_017008524.2:c.1043+5792A>G	XP_016864013.1:n.1043+5792A>G
XM_017008525.1:c.1016+5792A>G	XP_016864014.1:n.1016+5792A>G
XM_017008526.1:c.862A>G	XP_016864015.1:p.Ile288Val
NM_021634.4:c.1330A>G MANE Select	NP_067647.2:p.Ile444Val
NM_001253728.2:c.1231A>G	NP_001240657.1:p.Ile411Val
NM_001253729.2:c.1186A>G	NP_001240658.1:p.Ile396Val
NM_001253732.2:c.934A>G	NP_001240661.1:p.Ile312Val
NR_045579.2:n.2042A>G
NR_045580.2:n.1478A>G
NR_045581.2:n.1449A>G
NR_045582.2:n.1386A>G
NR_045583.2:n.1365A>G
NR_045584.2:n.1478A>G
NM_001253727.2:c.1411A>G	NP_001240656.1:p.Ile471Val
NM_001253730.2:c.937A>G	NP_001240659.1:p.Ile313Val
NM_001253733.2:c.862A>G	NP_001240662.1:p.Ile288Val