Canonical Allele Identifier: CA362857362

Gene: EDN1

Linked Data

• dbSNP Id: rs1762815271
• gnomAD v3: 6-12296030-G-C
• gnomAD v4: 6-12296030-G-C
• MyVariant Identifiers: chr6:g.12296263G>C (hg19) ; chr6:g.12296030G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12296030G>C , CM000668.2:g.12296030G>C	GRCh38
NC_000006.11:g.12296263G>C , CM000668.1:g.12296263G>C	GRCh37
NC_000006.10:g.12404249G>C	NCBI36
NG_016196.1:g.10735G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379375.6:c.602G>C MANE Select	ENSP00000368683.5:p.Arg201Thr
ENST00000379375.5:c.602G>C	ENSP00000368683.5:p.Arg201Thr
NM_001168319.1:c.599G>C	NP_001161791.1:p.Arg200Thr
NM_001955.4:c.602G>C	NP_001946.3:p.Arg201Thr
XM_011514330.1:c.602G>C	XP_011512632.1:p.Arg201Thr
XM_011514331.1:c.602G>C	XP_011512633.1:p.Arg201Thr
XM_011514332.1:c.599G>C	XP_011512634.1:p.Arg200Thr
XM_011514330.2:c.602G>C	XP_011512632.1:p.Arg201Thr
XM_011514331.3:c.602G>C	XP_011512633.1:p.Arg201Thr
XM_011514332.2:c.599G>C	XP_011512634.1:p.Arg200Thr
XM_017010331.1:c.602G>C	XP_016865820.1:p.Arg201Thr
NM_001955.5:c.602G>C MANE Select	NP_001946.3:p.Arg201Thr
NM_001168319.2:c.599G>C	NP_001161791.1:p.Arg200Thr