Canonical Allele Identifier: CA7012261

Gene: EDNRB EDNRB-AS1

Linked Data

• ClinVar Variation Id: 504853
• ClinVar RCV Id: RCV000839975 ; RCV000614742 ; RCV001111746
• dbSNP Id: rs77132068
• ExAC: 13:78477314 C / T
• gnomAD v2: 13-78477314-C-T
• gnomAD v3: 13-77903179-C-T
• gnomAD v4: 13-77903179-C-T
• COSMIC: COSM1950556 ; COSM1950557 ; COSM1950558
• MyVariant Identifiers: chr13:g.78477314C>T (hg19) ; chr13:g.77903179C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77903179C>T , CM000675.2:g.77903179C>T	GRCh38
NC_000013.10:g.78477314C>T , CM000675.1:g.78477314C>T	GRCh37
NC_000013.9:g.77375315C>T	NCBI36
NG_011630.2:g.77351G>A
NG_011630.3:g.76545G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475537.2:c.778G>A (EDNRB)	ENSP00000487082.2:p.Val260Ile
ENST00000643890.1:c.778G>A (EDNRB)	ENSP00000495815.1:p.Val260Ile
ENST00000645696.1:c.256G>A (EDNRB)	ENSP00000495984.1:p.Val86Ile
ENST00000646605.1:c.778G>A (EDNRB)	ENSP00000494278.1:p.Val260Ile
ENST00000646607.2:c.778G>A (EDNRB) MANE Select	ENSP00000493527.1:p.Val260Ile
ENST00000646948.1:c.778G>A (EDNRB)	ENSP00000493895.1:p.Val260Ile
ENST00000334286.7:c.778G>A (EDNRB)	ENSP00000335311.5:p.Val260Ile
ENST00000377211.8:c.1048G>A (EDNRB)	ENSP00000366416.4:p.Val350Ile
ENST00000626030.1:c.778G>A (EDNRB)	ENSP00000486202.1:p.Val260Ile
NM_000115.3:c.778G>A (EDNRB)	NP_000106.1:p.Val260Ile
NM_001122659.2:c.778G>A (EDNRB)	NP_001116131.1:p.Val260Ile
NM_001201397.1:c.1048G>A (EDNRB)	NP_001188326.1:p.Val350Ile
NM_003991.3:c.778G>A (EDNRB)	NP_003982.1:p.Val260Ile
NR_103853.1:n.1695-4513C>T (EDNRB-AS1)
XM_005266275.2:c.778G>A (EDNRB)	XP_005266332.2:p.Val260Ile
XM_011534949.1:c.778G>A (EDNRB)	XP_011533251.1:p.Val260Ile
NM_000115.4:c.778G>A (EDNRB)	NP_000106.1:p.Val260Ile
NM_001122659.3:c.778G>A (EDNRB) MANE Select	NP_001116131.1:p.Val260Ile
NM_000115.5:c.778G>A (EDNRB)	NP_000106.1:p.Val260Ile
NM_003991.4:c.778G>A (EDNRB)	NP_003982.1:p.Val260Ile