Canonical Allele Identifier: CA358564152

Gene: RXFP1

Linked Data

• dbSNP Id: rs1771253984
• gnomAD v4: 4-158645111-T-C
• MyVariant Identifiers: chr4:g.159566263T>C (hg19) ; chr4:g.158645111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158645111T>C , CM000666.2:g.158645111T>C	GRCh38
NC_000004.11:g.159566263T>C , CM000666.1:g.159566263T>C	GRCh37
NC_000004.10:g.159785713T>C	NCBI36
NG_031835.1:g.128398T>C
NG_031835.2:g.128398T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307765.10:c.1318T>C MANE Select	ENSP00000303248.5:p.Tyr440His
ENST00000307765.9:c.1318T>C	ENSP00000303248.5:p.Tyr440His
ENST00000342048.9:c.*928T>C	ENSP00000432036.1:n.*928T>C
ENST00000343542.9:c.1174T>C	ENSP00000345889.5:p.Tyr392His
ENST00000423548.5:c.1399T>C	ENSP00000405841.2:p.Tyr467His
ENST00000448688.6:c.850T>C	ENSP00000414885.3:p.Tyr284His
ENST00000460056.6:c.1075T>C	ENSP00000423306.1:p.Tyr359His
ENST00000470033.2:c.1219T>C	ENSP00000420712.1:p.Tyr407His
ENST00000471616.5:c.1371T>C	ENSP00000434475.1:n.1371T>C
ENST00000613319.4:c.925T>C	ENSP00000480522.1:p.Tyr309His
NM_001253727.1:c.1399T>C	NP_001240656.1:p.Tyr467His
NM_001253728.1:c.1219T>C	NP_001240657.1:p.Tyr407His
NM_001253729.1:c.1174T>C	NP_001240658.1:p.Tyr392His
NM_001253730.1:c.925T>C	NP_001240659.1:p.Tyr309His
NM_001253732.1:c.922T>C	NP_001240661.1:p.Tyr308His
NM_001253733.1:c.850T>C	NP_001240662.1:p.Tyr284His
NM_021634.3:c.1318T>C	NP_067647.2:p.Tyr440His
NR_045579.1:n.2198T>C
NR_045580.1:n.1634T>C
NR_045581.1:n.1605T>C
NR_045582.1:n.1542T>C
NR_045583.1:n.1521T>C
NR_045584.1:n.1634T>C
XM_011532174.1:c.1396T>C	XP_011530476.1:p.Tyr466His
XM_011532175.1:c.1327T>C	XP_011530477.1:p.Tyr443His
XM_011532176.1:c.1246T>C	XP_011530478.1:p.Tyr416His
XM_011532177.1:c.1156T>C	XP_011530479.1:p.Tyr386His
XM_011532178.1:c.1156T>C	XP_011530480.1:p.Tyr386His
XM_011532179.1:c.1196+5780T>C	XP_011530481.1:n.1196+5780T>C
NM_001363776.1:c.1075T>C	NP_001350705.1:p.Tyr359His
XM_011532176.2:c.1246T>C	XP_011530478.1:p.Tyr416His
XM_011532179.2:c.1196+5780T>C	XP_011530481.1:n.1196+5780T>C
XM_017008517.1:c.1324T>C	XP_016864006.1:p.Tyr442His
XM_017008518.2:c.1315T>C	XP_016864007.1:p.Tyr439His
XM_017008519.1:c.1156T>C	XP_016864008.1:p.Tyr386His
XM_017008520.1:c.1156T>C	XP_016864009.1:p.Tyr386His
XM_017008522.1:c.1072T>C	XP_016864011.1:p.Tyr358His
XM_017008523.2:c.1115+5780T>C	XP_016864012.1:n.1115+5780T>C
XM_017008524.2:c.1043+5780T>C	XP_016864013.1:n.1043+5780T>C
XM_017008525.1:c.1016+5780T>C	XP_016864014.1:n.1016+5780T>C
XM_017008526.1:c.850T>C	XP_016864015.1:p.Tyr284His
NM_021634.4:c.1318T>C MANE Select	NP_067647.2:p.Tyr440His
NM_001253728.2:c.1219T>C	NP_001240657.1:p.Tyr407His
NM_001253729.2:c.1174T>C	NP_001240658.1:p.Tyr392His
NM_001253732.2:c.922T>C	NP_001240661.1:p.Tyr308His
NR_045579.2:n.2030T>C
NR_045580.2:n.1466T>C
NR_045581.2:n.1437T>C
NR_045582.2:n.1374T>C
NR_045583.2:n.1353T>C
NR_045584.2:n.1466T>C
NM_001253727.2:c.1399T>C	NP_001240656.1:p.Tyr467His
NM_001253730.2:c.925T>C	NP_001240659.1:p.Tyr309His
NM_001253733.2:c.850T>C	NP_001240662.1:p.Tyr284His