Canonical Allele Identifier: CA565605860

Gene: EDN1

Linked Data

• dbSNP Id: rs1486725969
• gnomAD v2: 6-12289047-T-C
• gnomAD v3: 6-12288814-T-C
• gnomAD v4: 6-12288814-T-C
• MyVariant Identifiers: chr6:g.12289047T>C (hg19) ; chr6:g.12288814T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12288814T>C , CM000668.2:g.12288814T>C	GRCh38
NC_000006.11:g.12289047T>C , CM000668.1:g.12289047T>C	GRCh37
NC_000006.10:g.12397033T>C	NCBI36
NG_016196.1:g.3519T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011514330.1:c.-2+319T>C	XP_011512632.1:n.-2+319T>C
XM_011514331.1:c.-1-1815T>C	XP_011512633.1:n.-1-1815T>C
XM_011514332.1:c.-2+319T>C	XP_011512634.1:n.-2+319T>C
XM_011514330.2:c.-2+319T>C	XP_011512632.1:n.-2+319T>C
XM_011514331.3:c.-1-1815T>C	XP_011512633.1:n.-1-1815T>C
XM_011514332.2:c.-2+319T>C	XP_011512634.1:n.-2+319T>C