Canonical Allele Identifier: CA362856462

Gene: EDN1

Linked Data

• gnomAD v4: 6-12292492-T-G
• MyVariant Identifiers: chr6:g.12292725T>G (hg19) ; chr6:g.12292492T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292492T>G , CM000668.2:g.12292492T>G	GRCh38
NC_000006.11:g.12292725T>G , CM000668.1:g.12292725T>G	GRCh37
NC_000006.10:g.12400711T>G	NCBI36
NG_016196.1:g.7197T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.216T>G MANE Select	ENSP00000368683.5:p.Ile72Met
ENST00000379375.5:c.216T>G	ENSP00000368683.5:p.Ile72Met
NM_001168319.1:c.213T>G	NP_001161791.1:p.Ile71Met
NM_001955.4:c.216T>G	NP_001946.3:p.Ile72Met
XM_011514330.1:c.216T>G	XP_011512632.1:p.Ile72Met
XM_011514331.1:c.216T>G	XP_011512633.1:p.Ile72Met
XM_011514332.1:c.213T>G	XP_011512634.1:p.Ile71Met
XM_011514330.2:c.216T>G	XP_011512632.1:p.Ile72Met
XM_011514331.3:c.216T>G	XP_011512633.1:p.Ile72Met
XM_011514332.2:c.213T>G	XP_011512634.1:p.Ile71Met
XM_017010331.1:c.216T>G	XP_016865820.1:p.Ile72Met
NM_001955.5:c.216T>G MANE Select	NP_001946.3:p.Ile72Met
NM_001168319.2:c.213T>G	NP_001161791.1:p.Ile71Met