Canonical Allele Identifier: CA3638570
Gene: EDN1 HGNC NCBI

Linked Data

dbSNP Id: rs533831847
ExAC: 6:12290851 C / CT
gnomAD v2: 6-12290851-C-CT
gnomAD v3: 6-12290618-C-CT
gnomAD v4: 6-12290618-C-CT
MyVariant Identifiers: chr6:g.12290852_12290853insT (hg19) chr6:g.12290851_12290852insT (hg19) chr6:g.12290619_12290620insT (hg38) chr6:g.12290618_12290619insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12290625dup , CM000668.2:g.12290625dup GRCh38
NC_000006.11:g.12290858dup , CM000668.1:g.12290858dup GRCh37
NC_000006.10:g.12398844dup NCBI36
NG_016196.1:g.5330dup

Transcript Alleles

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