Canonical Allele Identifier: CA11703685
Gene: EDNRA HGNC NCBI
COSMIC:
COSN26732804 (not active)
MyVariant.info:
GRCh38 chr4:g.147542688G>C
GRCh37 chr4:g.148463840G>C
gnomAD v2:
4:148463840 G / C
gnomAD v3:
4:147542688 G / C
gnomAD v4:
chr4-147542688-G-C
Joint Max Group AF 0.72690019 (AFR)
Genomes Max Group AF 0.7201208 (AFR)
Exomes Max Group AF 0.73074793 (AFR)
ClinVar RCV:
RCV001724998
ClinVar Variation:
1297294
dbSNP:
5335
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.147542688G>C , CM000666.2:g.147542688G>C GRCh38
NC_000004.11:g.148463840G>C , CM000666.1:g.148463840G>C GRCh37
NC_000004.10:g.148683290G>C NCBI36
NG_013343.1:g.66772G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324300.10:c.*70G>C ENSP00000315011.5:n.*70G>C
ENST00000648866.1:c.*70G>C ENSP00000496976.1:n.*70G>C
ENST00000651419.1:c.*70G>C MANE Select ENSP00000498969.1:n.*70G>C
ENST00000324300.9:c.*70G>C ENSP00000315011.5:n.*70G>C
ENST00000358556.8:c.*70G>C ENSP00000351359.4:n.*70G>C
ENST00000503721.1:n.894G>C
ENST00000506066.1:c.1027G>C ENSP00000425281.1:n.1027G>C
ENST00000510697.5:c.1155G>C ENSP00000427259.1:n.1155G>C
ENST00000511804.5:c.*70G>C ENSP00000425354.1:n.*70G>C
NM_001166055.1:c.*70G>C NP_001159527.1:n.*70G>C
NM_001256283.1:c.*70G>C NP_001243212.1:n.*70G>C
NM_001957.3:c.*70G>C NP_001948.1:n.*70G>C
NR_045958.1:n.1685G>C
NR_148963.1:n.1394G>C
NR_148964.1:n.1195G>C
NM_001957.4:c.*70G>C MANE Select NP_001948.1:n.*70G>C
NR_045958.2:n.1505G>C
NR_148963.2:n.1214G>C
NR_148964.2:n.1015G>C
NM_001166055.2:c.*70G>C NP_001159527.1:n.*70G>C
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