Canonical Allele Identifier: CA126743
Gene: EDNRB HGNC NCBI
EDNRB-AS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16633
dbSNP Id: rs104894387

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77901181C>A , CM000675.2:g.77901181C>A GRCh38
NC_000013.10:g.78475316C>A , CM000675.1:g.78475316C>A GRCh37
NC_000013.9:g.77373317C>A NCBI36
NG_011630.2:g.79349G>T

Transcript Alleles

HGVS Amino-acid change
NM_000115.3:c.828G>T (EDNRB) VV NP_000106.1:p.Trp276Cys
NM_001122659.2:c.828G>T (EDNRB) VV NP_001116131.1:p.Trp276Cys
NM_001201397.1:c.1098G>T (EDNRB) VV NP_001188326.1:p.Trp366Cys
NM_003991.3:c.828G>T (EDNRB) VV NP_003982.1:p.Trp276Cys
NR_103853.1:n.1695-6511C>A (EDNRB-AS1)
XM_005266275.2:c.828G>T (EDNRB) XP_005266332.2:p.Trp276Cys
XM_011534949.1:c.828G>T (EDNRB) XP_011533251.1:p.Trp276Cys
NM_000115.4:c.828G>T (EDNRB) VV
NM_001122659.3:c.828G>T (EDNRB) VV
ENST00000334286.7:c.828G>T ENSP00000335311.5:p.Trp276Cys
ENST00000377211.8:c.1098G>T ENSP00000366416.4:p.Trp366Cys
ENST00000626030.1:c.828G>T ENSP00000486202.1:p.Trp276Cys