Canonical Allele Identifier: CA10576942
Gene: EDNRB HGNC NCBI
EDNRB-AS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 228342
ClinVar RCV Id: RCV000221133
dbSNP Id: rs876657688

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77903339C>T , CM000675.2:g.77903339C>T GRCh38
NC_000013.10:g.78477474C>T , CM000675.1:g.78477474C>T GRCh37
NC_000013.9:g.77375475C>T NCBI36
NG_011630.2:g.77191G>A

Transcript Alleles

HGVS Amino-acid change
NM_000115.3:c.618G>A (EDNRB) VV NP_000106.1:p.Trp206Ter
NM_001122659.2:c.618G>A (EDNRB) VV NP_001116131.1:p.Trp206Ter
NM_001201397.1:c.888G>A (EDNRB) VV NP_001188326.1:p.Trp296Ter
NM_003991.3:c.618G>A (EDNRB) VV NP_003982.1:p.Trp206Ter
NR_103853.1:n.1695-4353C>T (EDNRB-AS1)
XM_005266275.2:c.618G>A (EDNRB) XP_005266332.2:p.Trp206Ter
XM_011534949.1:c.618G>A (EDNRB) XP_011533251.1:p.Trp206Ter
NM_000115.4:c.618G>A (EDNRB) VV NP_000106.1:p.Trp206Ter
NM_001122659.3:c.618G>A (EDNRB) VV NP_001116131.1:p.Trp206Ter
ENST00000334286.7:c.618G>A ENSP00000335311.5:p.Trp206Ter
ENST00000377211.8:c.888G>A ENSP00000366416.4:p.Trp296Ter
ENST00000626030.1:c.618G>A ENSP00000486202.1:p.Trp206Ter