Canonical Allele Identifier: CA3638759
Gene: EDN1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.12295964C>T
GRCh37 chr6:g.12296197C>T
Revel Score:
ENST00000379375 (MANE Select) 0.149
gnomAD v2:
6:12296197 C / T
gnomAD v3:
6:12295964 C / T
gnomAD v4:
chr6-12295964-C-T
Joint Max Group AF 0.00022538 (MID)
Genomes Max Group AF 0.00018511 (AFR)
Exomes Max Group AF 0.00023608 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12295964C>T , CM000668.2:g.12295964C>T GRCh38
NC_000006.11:g.12296197C>T , CM000668.1:g.12296197C>T GRCh37
NC_000006.10:g.12404183C>T NCBI36
NG_016196.1:g.10669C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379375.6:c.536C>T MANE Select ENSP00000368683.5:p.Ser179Leu
ENST00000379375.5:c.536C>T ENSP00000368683.5:p.Ser179Leu
NM_001168319.1:c.533C>T NP_001161791.1:p.Ser178Leu
NM_001955.4:c.536C>T NP_001946.3:p.Ser179Leu
XM_011514330.1:c.536C>T XP_011512632.1:p.Ser179Leu
XM_011514331.1:c.536C>T XP_011512633.1:p.Ser179Leu
XM_011514332.1:c.533C>T XP_011512634.1:p.Ser178Leu
XM_011514330.2:c.536C>T XP_011512632.1:p.Ser179Leu
XM_011514331.3:c.536C>T XP_011512633.1:p.Ser179Leu
XM_011514332.2:c.533C>T XP_011512634.1:p.Ser178Leu
XM_017010331.1:c.536C>T XP_016865820.1:p.Ser179Leu
NM_001955.5:c.536C>T MANE Select NP_001946.3:p.Ser179Leu
NM_001168319.2:c.533C>T NP_001161791.1:p.Ser178Leu
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