Canonical Allele Identifier: CA362857234

Gene: EDN1

Linked Data

• dbSNP Id: rs1184921074
• gnomAD v3: 6-12295970-C-A
• gnomAD v4: 6-12295970-C-A
• MyVariant Identifiers: chr6:g.12296203C>A (hg19) ; chr6:g.12295970C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12295970C>A , CM000668.2:g.12295970C>A	GRCh38
NC_000006.11:g.12296203C>A , CM000668.1:g.12296203C>A	GRCh37
NC_000006.10:g.12404189C>A	NCBI36
NG_016196.1:g.10675C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379375.6:c.542C>A MANE Select	ENSP00000368683.5:p.Thr181Asn
ENST00000379375.5:c.542C>A	ENSP00000368683.5:p.Thr181Asn
NM_001168319.1:c.539C>A	NP_001161791.1:p.Thr180Asn
NM_001955.4:c.542C>A	NP_001946.3:p.Thr181Asn
XM_011514330.1:c.542C>A	XP_011512632.1:p.Thr181Asn
XM_011514331.1:c.542C>A	XP_011512633.1:p.Thr181Asn
XM_011514332.1:c.539C>A	XP_011512634.1:p.Thr180Asn
XM_011514330.2:c.542C>A	XP_011512632.1:p.Thr181Asn
XM_011514331.3:c.542C>A	XP_011512633.1:p.Thr181Asn
XM_011514332.2:c.539C>A	XP_011512634.1:p.Thr180Asn
XM_017010331.1:c.542C>A	XP_016865820.1:p.Thr181Asn
NM_001955.5:c.542C>A MANE Select	NP_001946.3:p.Thr181Asn
NM_001168319.2:c.539C>A	NP_001161791.1:p.Thr180Asn