Canonical Allele Identifier: CA3638746

Gene: EDN1

Linked Data

• dbSNP Id: rs199830490
• ExAC: 6:12296157 T / TA
• gnomAD v2: 6-12296157-T-TA
• gnomAD v3: 6-12295924-T-TA
• gnomAD v4: 6-12295924-T-TA
• MyVariant Identifiers: chr6:g.12296157_12296158insA (hg19) ; chr6:g.12295924_12295925insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12295928dup , CM000668.2:g.12295928dup	GRCh38
NC_000006.11:g.12296161dup , CM000668.1:g.12296161dup	GRCh37
NC_000006.10:g.12404147dup	NCBI36
NG_016196.1:g.10633dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000379375.6:c.534-34dup MANE Select	ENSP00000368683.5:n.534-34dup
ENST00000379375.5:c.534-34dup	ENSP00000368683.5:n.534-34dup
NM_001168319.1:c.531-34dup	NP_001161791.1:n.531-34dup
NM_001955.4:c.534-34dup	NP_001946.3:n.534-34dup
XM_011514330.1:c.534-34dup	XP_011512632.1:n.534-34dup
XM_011514331.1:c.534-34dup	XP_011512633.1:n.534-34dup
XM_011514332.1:c.531-34dup	XP_011512634.1:n.531-34dup
XM_011514330.2:c.534-34dup	XP_011512632.1:n.534-34dup
XM_011514331.3:c.534-34dup	XP_011512633.1:n.534-34dup
XM_011514332.2:c.531-34dup	XP_011512634.1:n.531-34dup
XM_017010331.1:c.534-34dup	XP_016865820.1:n.534-34dup
NM_001955.5:c.534-34dup MANE Select	NP_001946.3:n.534-34dup
NM_001168319.2:c.531-34dup	NP_001161791.1:n.531-34dup