Canonical Allele Identifier: CA10644834

Gene: EDNRB EDNRB-AS1

Linked Data

• ClinVar Variation Id: 312465
• ClinVar RCV Id: RCV000280415 ; RCV000319297
• dbSNP Id: rs886050324
• gnomAD v4: 13-77897341-G-A
• MyVariant Identifiers: chr13:g.78471476G>A (hg19) ; chr13:g.77897341G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77897341G>A , CM000675.2:g.77897341G>A	GRCh38
NC_000013.10:g.78471476G>A , CM000675.1:g.78471476G>A	GRCh37
NC_000013.9:g.77369477G>A	NCBI36
NG_011630.2:g.83189C>T
NG_011630.3:g.82383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646605.1:c.*859C>T (EDNRB)	ENSP00000494278.1:n.*859C>T
ENST00000646607.2:c.*859C>T (EDNRB) MANE Select	ENSP00000493527.1:n.*859C>T
ENST00000646948.1:c.*859C>T (EDNRB)	ENSP00000493895.1:n.*859C>T
ENST00000334286.7:c.*859C>T (EDNRB)	ENSP00000335311.5:n.*859C>T
ENST00000377211.8:c.*859C>T (EDNRB)	ENSP00000366416.4:n.*859C>T
ENST00000626030.1:c.1195-783C>T (EDNRB)	ENSP00000486202.1:n.1195-783C>T
NM_000115.3:c.*859C>T (EDNRB)	NP_000106.1:n.*859C>T
NM_001122659.2:c.*859C>T (EDNRB)	NP_001116131.1:n.*859C>T
NM_001201397.1:c.*859C>T (EDNRB)	NP_001188326.1:n.*859C>T
NM_003991.3:c.1195-783C>T (EDNRB)	NP_003982.1:n.1195-783C>T
NR_103853.1:n.1695-10351G>A (EDNRB-AS1)
XM_011534949.1:c.*859C>T (EDNRB)	XP_011533251.1:n.*859C>T
NM_000115.4:c.*859C>T (EDNRB)	NP_000106.1:n.*859C>T
NM_001122659.3:c.*859C>T (EDNRB) MANE Select	NP_001116131.1:n.*859C>T
NM_000115.5:c.*859C>T (EDNRB)	NP_000106.1:n.*859C>T
NM_003991.4:c.1195-783C>T (EDNRB)	NP_003982.1:n.1195-783C>T