Canonical Allele Identifier: CA134218046

Gene: EDN1

Linked Data

• dbSNP Id: rs887466451
• gnomAD v3: 6-12295900-T-G
• gnomAD v4: 6-12295900-T-G
• MyVariant Identifiers: chr6:g.12296133T>G (hg19) ; chr6:g.12295900T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12295900T>G , CM000668.2:g.12295900T>G	GRCh38
NC_000006.11:g.12296133T>G , CM000668.1:g.12296133T>G	GRCh37
NC_000006.10:g.12404119T>G	NCBI36
NG_016196.1:g.10605T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379375.6:c.534-62T>G MANE Select	ENSP00000368683.5:n.534-62T>G
ENST00000379375.5:c.534-62T>G	ENSP00000368683.5:n.534-62T>G
NM_001168319.1:c.531-62T>G	NP_001161791.1:n.531-62T>G
NM_001955.4:c.534-62T>G	NP_001946.3:n.534-62T>G
XM_011514330.1:c.534-62T>G	XP_011512632.1:n.534-62T>G
XM_011514331.1:c.534-62T>G	XP_011512633.1:n.534-62T>G
XM_011514332.1:c.531-62T>G	XP_011512634.1:n.531-62T>G
XM_011514330.2:c.534-62T>G	XP_011512632.1:n.534-62T>G
XM_011514331.3:c.534-62T>G	XP_011512633.1:n.534-62T>G
XM_011514332.2:c.531-62T>G	XP_011512634.1:n.531-62T>G
XM_017010331.1:c.534-62T>G	XP_016865820.1:n.534-62T>G
NM_001955.5:c.534-62T>G MANE Select	NP_001946.3:n.534-62T>G
NM_001168319.2:c.531-62T>G	NP_001161791.1:n.531-62T>G