Canonical Allele Identifier: CA788743621

Gene: EDNRA

Linked Data

• dbSNP Id: rs1254781806
• gnomAD v3: 4-147526265-A-C
• gnomAD v4: 4-147526265-A-C
• MyVariant Identifiers: chr4:g.148447417A>C (hg19) ; chr4:g.147526265A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.147526265A>C , CM000666.2:g.147526265A>C	GRCh38
NC_000004.11:g.148447417A>C , CM000666.1:g.148447417A>C	GRCh37
NC_000004.10:g.148666867A>C	NCBI36
NG_013343.1:g.50349A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324300.10:c.549-6241A>C	ENSP00000315011.5:n.549-6241A>C
ENST00000648866.1:c.-127-6241A>C	ENSP00000496976.1:n.-127-6241A>C
ENST00000651419.1:c.549-6241A>C MANE Select	ENSP00000498969.1:n.549-6241A>C
ENST00000324300.9:c.549-6241A>C	ENSP00000315011.5:n.549-6241A>C
ENST00000358556.8:c.421-9612A>C	ENSP00000351359.4:n.421-9612A>C
ENST00000506066.1:c.421-9612A>C	ENSP00000425281.1:n.421-9612A>C
ENST00000510697.5:c.548+6287A>C	ENSP00000427259.1:n.548+6287A>C
ENST00000511804.5:c.-127-6241A>C	ENSP00000425354.1:n.-127-6241A>C
ENST00000514245.1:n.269-6241A>C
NM_001166055.1:c.421-9612A>C	NP_001159527.1:n.421-9612A>C
NM_001256283.1:c.-127-6241A>C	NP_001243212.1:n.-127-6241A>C
NM_001957.3:c.549-6241A>C	NP_001948.1:n.549-6241A>C
NR_045958.1:n.1078+6287A>C
NM_001354797.1:c.549-232A>C	NP_001341726.1:n.549-232A>C
NR_148963.1:n.589-6241A>C
NR_148964.1:n.588+6287A>C
NM_001957.4:c.549-6241A>C MANE Select	NP_001948.1:n.549-6241A>C
NM_001354797.2:c.549-232A>C	NP_001341726.1:n.549-232A>C
NR_045958.2:n.898+6287A>C
NR_148963.2:n.409-6241A>C
NR_148964.2:n.408+6287A>C
NM_001166055.2:c.421-9612A>C	NP_001159527.1:n.421-9612A>C