Canonical Allele Identifier: CA3098008
Gene: EDNRA HGNC NCBI

Linked Data

ClinVar Variation Id: 1244028
ClinVar RCV Id: RCV001648294 RCV001658370
dbSNP Id: rs5333
ExAC: 4:148461037 T / C
gnomAD v2: 4-148461037-T-C
gnomAD v3: 4-147539885-T-C
gnomAD v4: 4-147539885-T-C
MyVariant Identifiers: chr4:g.148461037T>C (hg19) chr4:g.147539885T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.147539885T>C , CM000666.2:g.147539885T>C GRCh38
NC_000004.11:g.148461037T>C , CM000666.1:g.148461037T>C GRCh37
NC_000004.10:g.148680487T>C NCBI36
NG_013343.1:g.63969T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000324300.10:c.969T>C ENSP00000315011.5:p.His323=
ENST00000648866.1:c.294T>C ENSP00000496976.1:p.His98=
ENST00000651419.1:c.969T>C MANE Select ENSP00000498969.1:p.His323=
ENST00000324300.9:c.969T>C ENSP00000315011.5:p.His323=
ENST00000358556.8:c.642T>C ENSP00000351359.4:p.His214=
ENST00000503721.1:n.509T>C
ENST00000506066.1:c.642T>C ENSP00000425281.1:p.His214=
ENST00000510697.5:c.770T>C ENSP00000427259.1:n.770T>C
ENST00000511804.5:c.294T>C ENSP00000425354.1:p.His98=
NM_001166055.1:c.642T>C NP_001159527.1:p.His214=
NM_001256283.1:c.294T>C NP_001243212.1:p.His98=
NM_001957.3:c.969T>C NP_001948.1:p.His323=
NR_045958.1:n.1300T>C
NR_148963.1:n.1009T>C
NR_148964.1:n.810T>C
NM_001957.4:c.969T>C MANE Select NP_001948.1:p.His323=
NR_045958.2:n.1120T>C
NR_148963.2:n.829T>C
NR_148964.2:n.630T>C
NM_001166055.2:c.642T>C NP_001159527.1:p.His214=
Search 100 bp 5'
Search 100 bp 3'