Canonical Allele Identifier: CA134216869

Gene: EDN1

Linked Data

• dbSNP Id: rs761582688
• gnomAD v2: 6-12290552-T-C
• gnomAD v3: 6-12290319-T-C
• gnomAD v4: 6-12290319-T-C
• MyVariant Identifiers: chr6:g.12290552T>C (hg19) ; chr6:g.12290319T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290319T>C , CM000668.2:g.12290319T>C	GRCh38
NC_000006.11:g.12290552T>C , CM000668.1:g.12290552T>C	GRCh37
NC_000006.10:g.12398538T>C	NCBI36
NG_016196.1:g.5024T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001168319.1:c.-311T>C	NP_001161791.1:n.-311T>C
NM_001955.4:c.-311T>C	NP_001946.3:n.-311T>C
XM_011514330.1:c.-1-310T>C	XP_011512632.1:n.-1-310T>C
XM_011514331.1:c.-1-310T>C	XP_011512633.1:n.-1-310T>C
XM_011514332.1:c.-1-310T>C	XP_011512634.1:n.-1-310T>C
XM_011514330.2:c.-1-310T>C	XP_011512632.1:n.-1-310T>C
XM_011514331.3:c.-1-310T>C	XP_011512633.1:n.-1-310T>C
XM_011514332.2:c.-1-310T>C	XP_011512634.1:n.-1-310T>C
XM_017010331.1:c.-2+196T>C	XP_016865820.1:n.-2+196T>C