Canonical Allele Identifier: CA7012417

Gene: EDNRB

Linked Data

• ClinVar Variation Id: 225346
• ClinVar RCV Id: RCV000216068 ; RCV000490514 ; RCV000989153 ; RCV001705184
• dbSNP Id: rs2070591
• ExAC: 13:78492734 C / T
• gnomAD v2: 13-78492734-C-T
• gnomAD v3: 13-77918599-C-T
• gnomAD v4: 13-77918599-C-T
• MyVariant Identifiers: chr13:g.78492734C>T (hg19) ; chr13:g.77918599C>T (hg38)
• PubMed: PMID:8852660 ; PMID:10458491 ; PMID:10664228 ; PMID:14633923 ; PMID:17011274 ; PMID:18162831

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77918599C>T , CM000675.2:g.77918599C>T	GRCh38
NC_000013.10:g.78492734C>T , CM000675.1:g.78492734C>T	GRCh37
NC_000013.9:g.77390735C>T	NCBI36
NG_011630.2:g.61931G>A
NG_011630.3:g.61125G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475537.2:c.-26G>A	ENSP00000487082.2:n.-26G>A
ENST00000643890.1:c.-26G>A	ENSP00000495815.1:n.-26G>A
ENST00000646605.1:c.-26G>A	ENSP00000494278.1:n.-26G>A
ENST00000646607.2:c.-26G>A MANE Select	ENSP00000493527.1:n.-26G>A
ENST00000646948.1:c.-26G>A	ENSP00000493895.1:n.-26G>A
ENST00000334286.7:c.-26G>A	ENSP00000335311.5:n.-26G>A
ENST00000377211.8:c.245G>A	ENSP00000366416.4:p.Arg82Gln
ENST00000475537.1:c.-26G>A	ENSP00000487082.1:n.-26G>A
ENST00000626030.1:c.-26G>A	ENSP00000486202.1:n.-26G>A
NM_000115.3:c.-26G>A	NP_000106.1:n.-26G>A
NM_001122659.2:c.-26G>A	NP_001116131.1:n.-26G>A
NM_001201397.1:c.245G>A	NP_001188326.1:p.Arg82Gln
NM_003991.3:c.-26G>A	NP_003982.1:n.-26G>A
XM_005266275.2:c.-26G>A	XP_005266332.2:n.-26G>A
XM_011534949.1:c.-26G>A	XP_011533251.1:n.-26G>A
NM_000115.4:c.-26G>A	NP_000106.1:n.-26G>A
NM_001122659.3:c.-26G>A MANE Select	NP_001116131.1:n.-26G>A
NM_000115.5:c.-26G>A	NP_000106.1:n.-26G>A
NM_003991.4:c.-26G>A	NP_003982.1:n.-26G>A