Canonical Allele Identifier: CA448427871

Gene: EDN1

Linked Data

• dbSNP Id: rs1257707514
• gnomAD v2: 6-12294566-G-A
• gnomAD v3: 6-12294333-G-A
• gnomAD v4: 6-12294333-G-A
• COSMIC: COSM4586183
• MyVariant Identifiers: chr6:g.12294566G>A (hg19) ; chr6:g.12294333G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12294333G>A , CM000668.2:g.12294333G>A	GRCh38
NC_000006.11:g.12294566G>A , CM000668.1:g.12294566G>A	GRCh37
NC_000006.10:g.12402552G>A	NCBI36
NG_016196.1:g.9038G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.462G>A MANE Select	ENSP00000368683.5:p.Lys154=
ENST00000379375.5:c.462G>A	ENSP00000368683.5:p.Lys154=
NM_001168319.1:c.459G>A	NP_001161791.1:p.Lys153=
NM_001955.4:c.462G>A	NP_001946.3:p.Lys154=
XM_011514330.1:c.462G>A	XP_011512632.1:p.Lys154=
XM_011514331.1:c.462G>A	XP_011512633.1:p.Lys154=
XM_011514332.1:c.459G>A	XP_011512634.1:p.Lys153=
XM_011514330.2:c.462G>A	XP_011512632.1:p.Lys154=
XM_011514331.3:c.462G>A	XP_011512633.1:p.Lys154=
XM_011514332.2:c.459G>A	XP_011512634.1:p.Lys153=
XM_017010331.1:c.462G>A	XP_016865820.1:p.Lys154=
NM_001955.5:c.462G>A MANE Select	NP_001946.3:p.Lys154=
NM_001168319.2:c.459G>A	NP_001161791.1:p.Lys153=