Canonical Allele Identifier: CA10639728
Gene: EDNRB HGNC NCBI
EDNRB-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 312445
ClinVar RCV Id: RCV000324670
dbSNP Id: rs186739277

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77895942C>A , CM000675.2:g.77895942C>A GRCh38
NC_000013.10:g.78470077C>A , CM000675.1:g.78470077C>A GRCh37
NC_000013.9:g.77368078C>A NCBI36
NG_011630.2:g.84588G>T
NG_011630.3:g.83782G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646605.1:c.*2258G>T (EDNRB) ENSP00000494278.1:n.*2258G>T
ENST00000646607.2:c.*2258G>T (EDNRB) MANE Select ENSP00000493527.1:n.*2258G>T
ENST00000646948.1:c.*2258G>T (EDNRB) ENSP00000493895.1:n.*2258G>T
ENST00000334286.7:c.*2258G>T (EDNRB) ENSP00000335311.5:n.*2258G>T
ENST00000377211.8:c.*2258G>T (EDNRB) ENSP00000366416.4:n.*2258G>T
NM_000115.3:c.*2258G>T (EDNRB) NP_000106.1:n.*2258G>T
NM_001122659.2:c.*2258G>T (EDNRB) NP_001116131.1:n.*2258G>T
NM_001201397.1:c.*2258G>T (EDNRB) NP_001188326.1:n.*2258G>T
NM_003991.3:c.*500G>T (EDNRB) NP_003982.1:n.*500G>T
NR_103853.1:n.1695-11750C>A (EDNRB-AS1)
XM_011534949.1:c.*2258G>T (EDNRB) XP_011533251.1:n.*2258G>T
NM_000115.4:c.*2258G>T (EDNRB) NP_000106.1:n.*2258G>T
NM_001122659.3:c.*2258G>T (EDNRB) MANE Select NP_001116131.1:n.*2258G>T
NM_000115.5:c.*2258G>T (EDNRB) NP_000106.1:n.*2258G>T
NM_003991.4:c.*500G>T (EDNRB) NP_003982.1:n.*500G>T