Canonical Allele Identifier: CA15318130

Gene: EDNRA

Linked Data

• dbSNP Id: rs6841473
• gnomAD v2: 4-148407652-C-T
• gnomAD v3: 4-147486500-C-T
• gnomAD v4: 4-147486500-C-T
• MyVariant Identifiers: chr4:g.148407652C>T (hg19) ; chr4:g.147486500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.147486500C>T , CM000666.2:g.147486500C>T	GRCh38
NC_000004.11:g.148407652C>T , CM000666.1:g.148407652C>T	GRCh37
NC_000004.10:g.148627102C>T	NCBI36
NG_013343.1:g.10584C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324300.10:c.420+399C>T	ENSP00000315011.5:n.420+399C>T
ENST00000648866.1:c.-256+399C>T	ENSP00000496976.1:n.-256+399C>T
ENST00000651419.1:c.420+399C>T MANE Select	ENSP00000498969.1:n.420+399C>T
ENST00000324300.9:c.420+399C>T	ENSP00000315011.5:n.420+399C>T
ENST00000358556.8:c.420+399C>T	ENSP00000351359.4:n.420+399C>T
ENST00000506066.1:c.420+399C>T	ENSP00000425281.1:n.420+399C>T
ENST00000510697.5:c.420+399C>T	ENSP00000427259.1:n.420+399C>T
ENST00000511804.5:c.-256+5124C>T	ENSP00000425354.1:n.-256+5124C>T
ENST00000514245.1:n.268+399C>T
NM_001166055.1:c.420+399C>T	NP_001159527.1:n.420+399C>T
NM_001256283.1:c.-256+5124C>T	NP_001243212.1:n.-256+5124C>T
NM_001957.3:c.420+399C>T	NP_001948.1:n.420+399C>T
NR_045958.1:n.950+399C>T
NM_001354797.1:c.420+399C>T	NP_001341726.1:n.420+399C>T
NR_148963.1:n.460+5124C>T
NR_148964.1:n.460+5124C>T
NM_001957.4:c.420+399C>T MANE Select	NP_001948.1:n.420+399C>T
NM_001354797.2:c.420+399C>T	NP_001341726.1:n.420+399C>T
NR_045958.2:n.770+399C>T
NR_148963.2:n.280+5124C>T
NR_148964.2:n.280+5124C>T
NM_001166055.2:c.420+399C>T	NP_001159527.1:n.420+399C>T