Canonical Allele Identifier: CA3638588

Gene: EDN1

Linked Data

• ClinVar Variation Id: 776110
• ClinVar RCV Id: RCV000956362
• dbSNP Id: rs10478695
• ExAC: 6:12290934 C / T
• gnomAD v2: 6-12290934-C-T
• gnomAD v3: 6-12290701-C-T
• gnomAD v4: 6-12290701-C-T
• MyVariant Identifiers: chr6:g.12290934C>T (hg19) ; chr6:g.12290701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290701C>T , CM000668.2:g.12290701C>T	GRCh38
NC_000006.11:g.12290934C>T , CM000668.1:g.12290934C>T	GRCh37
NC_000006.10:g.12398920C>T	NCBI36
NG_016196.1:g.5406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.64+8C>T MANE Select	ENSP00000368683.5:n.64+8C>T
ENST00000379375.5:c.64+8C>T	ENSP00000368683.5:n.64+8C>T
NM_001168319.1:c.64+8C>T	NP_001161791.1:n.64+8C>T
NM_001955.4:c.64+8C>T	NP_001946.3:n.64+8C>T
XM_011514330.1:c.64+8C>T	XP_011512632.1:n.64+8C>T
XM_011514331.1:c.64+8C>T	XP_011512633.1:n.64+8C>T
XM_011514332.1:c.64+8C>T	XP_011512634.1:n.64+8C>T
XM_011514330.2:c.64+8C>T	XP_011512632.1:n.64+8C>T
XM_011514331.3:c.64+8C>T	XP_011512633.1:n.64+8C>T
XM_011514332.2:c.64+8C>T	XP_011512634.1:n.64+8C>T
XM_017010331.1:c.64+8C>T	XP_016865820.1:n.64+8C>T
NM_001955.5:c.64+8C>T MANE Select	NP_001946.3:n.64+8C>T
NM_001168319.2:c.64+8C>T	NP_001161791.1:n.64+8C>T