Canonical Allele Identifier: CA362857344

Gene: EDN1

Linked Data

• MyVariant Identifiers: chr6:g.12296253A>C (hg19) ; chr6:g.12296020A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12296020A>C , CM000668.2:g.12296020A>C	GRCh38
NC_000006.11:g.12296253A>C , CM000668.1:g.12296253A>C	GRCh37
NC_000006.10:g.12404239A>C	NCBI36
NG_016196.1:g.10725A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.592A>C MANE Select	ENSP00000368683.5:p.Lys198Gln
ENST00000379375.5:c.592A>C	ENSP00000368683.5:p.Lys198Gln
NM_001168319.1:c.589A>C	NP_001161791.1:p.Lys197Gln
NM_001955.4:c.592A>C	NP_001946.3:p.Lys198Gln
XM_011514330.1:c.592A>C	XP_011512632.1:p.Lys198Gln
XM_011514331.1:c.592A>C	XP_011512633.1:p.Lys198Gln
XM_011514332.1:c.589A>C	XP_011512634.1:p.Lys197Gln
XM_011514330.2:c.592A>C	XP_011512632.1:p.Lys198Gln
XM_011514331.3:c.592A>C	XP_011512633.1:p.Lys198Gln
XM_011514332.2:c.589A>C	XP_011512634.1:p.Lys197Gln
XM_017010331.1:c.592A>C	XP_016865820.1:p.Lys198Gln
NM_001955.5:c.592A>C MANE Select	NP_001946.3:p.Lys198Gln
NM_001168319.2:c.589A>C	NP_001161791.1:p.Lys197Gln