Canonical Allele Identifier: CA362856409

Gene: EDN1

Linked Data

• gnomAD v4: 6-12292470-A-G
• COSMIC: COSM3620075
• MyVariant Identifiers: chr6:g.12292703A>G (hg19) ; chr6:g.12292470A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292470A>G , CM000668.2:g.12292470A>G	GRCh38
NC_000006.11:g.12292703A>G , CM000668.1:g.12292703A>G	GRCh37
NC_000006.10:g.12400689A>G	NCBI36
NG_016196.1:g.7175A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.194A>G MANE Select	ENSP00000368683.5:p.Tyr65Cys
ENST00000379375.5:c.194A>G	ENSP00000368683.5:p.Tyr65Cys
NM_001168319.1:c.191A>G	NP_001161791.1:p.Tyr64Cys
NM_001955.4:c.194A>G	NP_001946.3:p.Tyr65Cys
XM_011514330.1:c.194A>G	XP_011512632.1:p.Tyr65Cys
XM_011514331.1:c.194A>G	XP_011512633.1:p.Tyr65Cys
XM_011514332.1:c.191A>G	XP_011512634.1:p.Tyr64Cys
XM_011514330.2:c.194A>G	XP_011512632.1:p.Tyr65Cys
XM_011514331.3:c.194A>G	XP_011512633.1:p.Tyr65Cys
XM_011514332.2:c.191A>G	XP_011512634.1:p.Tyr64Cys
XM_017010331.1:c.194A>G	XP_016865820.1:p.Tyr65Cys
NM_001955.5:c.194A>G MANE Select	NP_001946.3:p.Tyr65Cys
NM_001168319.2:c.191A>G	NP_001161791.1:p.Tyr64Cys