Canonical Allele Identifier: CA7012178

Gene: EDNRB EDNRB-AS1

Linked Data

• ClinVar Variation Id: 312470
• ClinVar RCV Id: RCV000260247 ; RCV001859873
• dbSNP Id: rs200939685
• ExAC: 13:78474049 C / G
• gnomAD v2: 13-78474049-C-G
• gnomAD v3: 13-77899914-C-G
• gnomAD v4: 13-77899914-C-G
• MyVariant Identifiers: chr13:g.78474049C>G (hg19) ; chr13:g.77899914C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77899914C>G , CM000675.2:g.77899914C>G	GRCh38
NC_000013.10:g.78474049C>G , CM000675.1:g.78474049C>G	GRCh37
NC_000013.9:g.77372050C>G	NCBI36
NG_011630.2:g.80616G>C
NG_011630.3:g.79810G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475537.2:c.1139G>C (EDNRB)	ENSP00000487082.2:p.Cys380Ser
ENST00000643890.1:c.1139G>C (EDNRB)	ENSP00000495815.1:p.Cys380Ser
ENST00000645696.1:c.483G>C (EDNRB)	ENSP00000495984.1:p.Leu161=
ENST00000646605.1:c.1139G>C (EDNRB)	ENSP00000494278.1:p.Cys380Ser
ENST00000646607.2:c.1139G>C (EDNRB) MANE Select	ENSP00000493527.1:p.Cys380Ser
ENST00000646948.1:c.1139G>C (EDNRB)	ENSP00000493895.1:p.Cys380Ser
ENST00000334286.7:c.1139G>C (EDNRB)	ENSP00000335311.5:p.Cys380Ser
ENST00000377211.8:c.1409G>C (EDNRB)	ENSP00000366416.4:p.Cys470Ser
ENST00000626030.1:c.1139G>C (EDNRB)	ENSP00000486202.1:p.Cys380Ser
NM_000115.3:c.1139G>C (EDNRB)	NP_000106.1:p.Cys380Ser
NM_001122659.2:c.1139G>C (EDNRB)	NP_001116131.1:p.Cys380Ser
NM_001201397.1:c.1409G>C (EDNRB)	NP_001188326.1:p.Cys470Ser
NM_003991.3:c.1139G>C (EDNRB)	NP_003982.1:p.Cys380Ser
NR_103853.1:n.1695-7778C>G (EDNRB-AS1)
XM_005266275.2:c.1005G>C (EDNRB)	XP_005266332.2:p.Leu335=
XM_011534949.1:c.1139G>C (EDNRB)	XP_011533251.1:p.Cys380Ser
NM_000115.4:c.1139G>C (EDNRB)	NP_000106.1:p.Cys380Ser
NM_001122659.3:c.1139G>C (EDNRB) MANE Select	NP_001116131.1:p.Cys380Ser
NM_000115.5:c.1139G>C (EDNRB)	NP_000106.1:p.Cys380Ser
NM_003991.4:c.1139G>C (EDNRB)	NP_003982.1:p.Cys380Ser