Canonical Allele Identifier: CA1610841039
Gene: EDN1 HGNC NCBI

Linked Data

dbSNP Id: rs1762637971
gnomAD v3: 6-12290314-T-C
gnomAD v4: 6-12290314-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12290314T>C , CM000668.2:g.12290314T>C GRCh38
NC_000006.11:g.12290547T>C , CM000668.1:g.12290547T>C GRCh37
NC_000006.10:g.12398533T>C NCBI36
NG_016196.1:g.5019T>C

Transcript Alleles

HGVS Amino-acid change
NM_001168319.1:c.-316T>C NP_001161791.1:n.-316T>C
NM_001955.4:c.-316T>C NP_001946.3:n.-316T>C
XM_011514330.1:c.-1-315T>C XP_011512632.1:n.-1-315T>C
XM_011514331.1:c.-1-315T>C XP_011512633.1:n.-1-315T>C
XM_011514332.1:c.-1-315T>C XP_011512634.1:n.-1-315T>C
XM_011514330.2:c.-1-315T>C XP_011512632.1:n.-1-315T>C
XM_011514331.3:c.-1-315T>C XP_011512633.1:n.-1-315T>C
XM_011514332.2:c.-1-315T>C XP_011512634.1:n.-1-315T>C
XM_017010331.1:c.-2+191T>C XP_016865820.1:n.-2+191T>C
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