Canonical Allele Identifier: CA362856493

Gene: EDN1

Linked Data

• dbSNP Id: rs1446318735
• gnomAD v2: 6-12292741-G-C
• MyVariant Identifiers: chr6:g.12292741G>C (hg19) ; chr6:g.12292508G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292508G>C , CM000668.2:g.12292508G>C	GRCh38
NC_000006.11:g.12292741G>C , CM000668.1:g.12292741G>C	GRCh37
NC_000006.10:g.12400727G>C	NCBI36
NG_016196.1:g.7213G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.232G>C MANE Select	ENSP00000368683.5:p.Glu78Gln
ENST00000379375.5:c.232G>C	ENSP00000368683.5:p.Glu78Gln
NM_001168319.1:c.229G>C	NP_001161791.1:p.Glu77Gln
NM_001955.4:c.232G>C	NP_001946.3:p.Glu78Gln
XM_011514330.1:c.232G>C	XP_011512632.1:p.Glu78Gln
XM_011514331.1:c.232G>C	XP_011512633.1:p.Glu78Gln
XM_011514332.1:c.229G>C	XP_011512634.1:p.Glu77Gln
XM_011514330.2:c.232G>C	XP_011512632.1:p.Glu78Gln
XM_011514331.3:c.232G>C	XP_011512633.1:p.Glu78Gln
XM_011514332.2:c.229G>C	XP_011512634.1:p.Glu77Gln
XM_017010331.1:c.232G>C	XP_016865820.1:p.Glu78Gln
NM_001955.5:c.232G>C MANE Select	NP_001946.3:p.Glu78Gln
NM_001168319.2:c.229G>C	NP_001161791.1:p.Glu77Gln