Canonical Allele Identifier: CA3638772

Gene: EDN1

Linked Data

• dbSNP Id: rs767963465
• ExAC: 6:12296257 C / T
• gnomAD v2: 6-12296257-C-T
• gnomAD v4: 6-12296024-C-T
• COSMIC: COSM1696932
• MyVariant Identifiers: chr6:g.12296257C>T (hg19) ; chr6:g.12296024C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12296024C>T , CM000668.2:g.12296024C>T	GRCh38
NC_000006.11:g.12296257C>T , CM000668.1:g.12296257C>T	GRCh37
NC_000006.10:g.12404243C>T	NCBI36
NG_016196.1:g.10729C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379375.6:c.596C>T MANE Select	ENSP00000368683.5:p.Pro199Leu
ENST00000379375.5:c.596C>T	ENSP00000368683.5:p.Pro199Leu
NM_001168319.1:c.593C>T	NP_001161791.1:p.Pro198Leu
NM_001955.4:c.596C>T	NP_001946.3:p.Pro199Leu
XM_011514330.1:c.596C>T	XP_011512632.1:p.Pro199Leu
XM_011514331.1:c.596C>T	XP_011512633.1:p.Pro199Leu
XM_011514332.1:c.593C>T	XP_011512634.1:p.Pro198Leu
XM_011514330.2:c.596C>T	XP_011512632.1:p.Pro199Leu
XM_011514331.3:c.596C>T	XP_011512633.1:p.Pro199Leu
XM_011514332.2:c.593C>T	XP_011512634.1:p.Pro198Leu
XM_017010331.1:c.596C>T	XP_016865820.1:p.Pro199Leu
NM_001955.5:c.596C>T MANE Select	NP_001946.3:p.Pro199Leu
NM_001168319.2:c.593C>T	NP_001161791.1:p.Pro198Leu