Canonical Allele Identifier: CA362856401

Gene: EDN1

Linked Data

• MyVariant Identifiers: chr6:g.12292699G>C (hg19) ; chr6:g.12292466G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292466G>C , CM000668.2:g.12292466G>C	GRCh38
NC_000006.11:g.12292699G>C , CM000668.1:g.12292699G>C	GRCh37
NC_000006.10:g.12400685G>C	NCBI36
NG_016196.1:g.7171G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.190G>C MANE Select	ENSP00000368683.5:p.Val64Leu
ENST00000379375.5:c.190G>C	ENSP00000368683.5:p.Val64Leu
NM_001168319.1:c.187G>C	NP_001161791.1:p.Val63Leu
NM_001955.4:c.190G>C	NP_001946.3:p.Val64Leu
XM_011514330.1:c.190G>C	XP_011512632.1:p.Val64Leu
XM_011514331.1:c.190G>C	XP_011512633.1:p.Val64Leu
XM_011514332.1:c.187G>C	XP_011512634.1:p.Val63Leu
XM_011514330.2:c.190G>C	XP_011512632.1:p.Val64Leu
XM_011514331.3:c.190G>C	XP_011512633.1:p.Val64Leu
XM_011514332.2:c.187G>C	XP_011512634.1:p.Val63Leu
XM_017010331.1:c.190G>C	XP_016865820.1:p.Val64Leu
NM_001955.5:c.190G>C MANE Select	NP_001946.3:p.Val64Leu
NM_001168319.2:c.187G>C	NP_001161791.1:p.Val63Leu