Canonical Allele Identifier: CA3638782

Gene: EDN1

Linked Data

• dbSNP Id: rs780851020
• ExAC: 6:12296295 T / C
• gnomAD v2: 6-12296295-T-C
• gnomAD v3: 6-12296062-T-C
• gnomAD v4: 6-12296062-T-C
• MyVariant Identifiers: chr6:g.12296295T>C (hg19) ; chr6:g.12296062T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12296062T>C , CM000668.2:g.12296062T>C	GRCh38
NC_000006.11:g.12296295T>C , CM000668.1:g.12296295T>C	GRCh37
NC_000006.10:g.12404281T>C	NCBI36
NG_016196.1:g.10767T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379375.6:c.634T>C MANE Select	ENSP00000368683.5:p.Trp212Arg
ENST00000379375.5:c.634T>C	ENSP00000368683.5:p.Trp212Arg
NM_001168319.1:c.631T>C	NP_001161791.1:p.Trp211Arg
NM_001955.4:c.634T>C	NP_001946.3:p.Trp212Arg
XM_011514330.1:c.634T>C	XP_011512632.1:p.Trp212Arg
XM_011514331.1:c.634T>C	XP_011512633.1:p.Trp212Arg
XM_011514332.1:c.631T>C	XP_011512634.1:p.Trp211Arg
XM_011514330.2:c.634T>C	XP_011512632.1:p.Trp212Arg
XM_011514331.3:c.634T>C	XP_011512633.1:p.Trp212Arg
XM_011514332.2:c.631T>C	XP_011512634.1:p.Trp211Arg
XM_017010331.1:c.634T>C	XP_016865820.1:p.Trp212Arg
NM_001955.5:c.634T>C MANE Select	NP_001946.3:p.Trp212Arg
NM_001168319.2:c.631T>C	NP_001161791.1:p.Trp211Arg