Canonical Allele Identifier: CA7012292

Gene: EDNRB EDNRB-AS1

Linked Data

• ClinVar Variation Id: 2054388
• ClinVar RCV Id: RCV002909770
• dbSNP Id: rs777593504
• ExAC: 13:78477462 T / C
• gnomAD v2: 13-78477462-T-C
• gnomAD v4: 13-77903327-T-C
• MyVariant Identifiers: chr13:g.78477462T>C (hg19) ; chr13:g.77903327T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77903327T>C , CM000675.2:g.77903327T>C	GRCh38
NC_000013.10:g.78477462T>C , CM000675.1:g.78477462T>C	GRCh37
NC_000013.9:g.77375463T>C	NCBI36
NG_011630.2:g.77203A>G
NG_011630.3:g.76397A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475537.2:c.630A>G (EDNRB)	ENSP00000487082.2:p.Lys210=
ENST00000643890.1:c.630A>G (EDNRB)	ENSP00000495815.1:p.Lys210=
ENST00000645696.1:c.108A>G (EDNRB)	ENSP00000495984.1:p.Lys36=
ENST00000646605.1:c.630A>G (EDNRB)	ENSP00000494278.1:p.Lys210=
ENST00000646607.2:c.630A>G (EDNRB) MANE Select	ENSP00000493527.1:p.Lys210=
ENST00000646948.1:c.630A>G (EDNRB)	ENSP00000493895.1:p.Lys210=
ENST00000334286.7:c.630A>G (EDNRB)	ENSP00000335311.5:p.Lys210=
ENST00000377211.8:c.900A>G (EDNRB)	ENSP00000366416.4:p.Lys300=
ENST00000626030.1:c.630A>G (EDNRB)	ENSP00000486202.1:p.Lys210=
NM_000115.3:c.630A>G (EDNRB)	NP_000106.1:p.Lys210=
NM_001122659.2:c.630A>G (EDNRB)	NP_001116131.1:p.Lys210=
NM_001201397.1:c.900A>G (EDNRB)	NP_001188326.1:p.Lys300=
NM_003991.3:c.630A>G (EDNRB)	NP_003982.1:p.Lys210=
NR_103853.1:n.1695-4365T>C (EDNRB-AS1)
XM_005266275.2:c.630A>G (EDNRB)	XP_005266332.2:p.Lys210=
XM_011534949.1:c.630A>G (EDNRB)	XP_011533251.1:p.Lys210=
NM_000115.4:c.630A>G (EDNRB)	NP_000106.1:p.Lys210=
NM_001122659.3:c.630A>G (EDNRB) MANE Select	NP_001116131.1:p.Lys210=
NM_000115.5:c.630A>G (EDNRB)	NP_000106.1:p.Lys210=
NM_003991.4:c.630A>G (EDNRB)	NP_003982.1:p.Lys210=