Canonical Allele Identifier: CA108400878

Gene: EDNRA

Linked Data

• dbSNP Id: rs926809620
• gnomAD v2: 4-148447427-G-A
• gnomAD v3: 4-147526275-G-A
• gnomAD v4: 4-147526275-G-A
• MyVariant Identifiers: chr4:g.148447427G>A (hg19) ; chr4:g.147526275G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.147526275G>A , CM000666.2:g.147526275G>A	GRCh38
NC_000004.11:g.148447427G>A , CM000666.1:g.148447427G>A	GRCh37
NC_000004.10:g.148666877G>A	NCBI36
NG_013343.1:g.50359G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324300.10:c.549-6231G>A	ENSP00000315011.5:n.549-6231G>A
ENST00000648866.1:c.-127-6231G>A	ENSP00000496976.1:n.-127-6231G>A
ENST00000651419.1:c.549-6231G>A MANE Select	ENSP00000498969.1:n.549-6231G>A
ENST00000324300.9:c.549-6231G>A	ENSP00000315011.5:n.549-6231G>A
ENST00000358556.8:c.421-9602G>A	ENSP00000351359.4:n.421-9602G>A
ENST00000506066.1:c.421-9602G>A	ENSP00000425281.1:n.421-9602G>A
ENST00000510697.5:c.548+6297G>A	ENSP00000427259.1:n.548+6297G>A
ENST00000511804.5:c.-127-6231G>A	ENSP00000425354.1:n.-127-6231G>A
ENST00000514245.1:n.269-6231G>A
NM_001166055.1:c.421-9602G>A	NP_001159527.1:n.421-9602G>A
NM_001256283.1:c.-127-6231G>A	NP_001243212.1:n.-127-6231G>A
NM_001957.3:c.549-6231G>A	NP_001948.1:n.549-6231G>A
NR_045958.1:n.1078+6297G>A
NM_001354797.1:c.549-222G>A	NP_001341726.1:n.549-222G>A
NR_148963.1:n.589-6231G>A
NR_148964.1:n.588+6297G>A
NM_001957.4:c.549-6231G>A MANE Select	NP_001948.1:n.549-6231G>A
NM_001354797.2:c.549-222G>A	NP_001341726.1:n.549-222G>A
NR_045958.2:n.898+6297G>A
NR_148963.2:n.409-6231G>A
NR_148964.2:n.408+6297G>A
NM_001166055.2:c.421-9602G>A	NP_001159527.1:n.421-9602G>A