Canonical Allele Identifier: CA732266380

Gene: EPHX1

Linked Data

• dbSNP Id: rs2260863
• gnomAD v4: 1-225832073-G-A
• MyVariant Identifiers: chr1:g.226019774G>A (hg19) ; chr1:g.225832073G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225832073G>A , CM000663.2:g.225832073G>A	GRCh38
NC_000001.10:g.226019774G>A , CM000663.1:g.226019774G>A	GRCh37
NC_000001.9:g.224086397G>A	NCBI36
NG_009776.1:g.26978G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272167.10:c.364+114G>A MANE Select	ENSP00000272167.5:n.364+114G>A
ENST00000272167.9:c.364+114G>A	ENSP00000272167.5:n.364+114G>A
ENST00000366837.5:c.364+114G>A	ENSP00000355802.4:n.364+114G>A
ENST00000445856.5:c.364+114G>A	ENSP00000398491.1:n.364+114G>A
ENST00000448202.5:c.364+114G>A	ENSP00000408469.1:n.364+114G>A
ENST00000467015.1:n.365G>A
ENST00000614058.4:c.364+114G>A	ENSP00000480004.1:n.364+114G>A
NM_000120.3:c.364+114G>A	NP_000111.1:n.364+114G>A
NM_001136018.3:c.364+114G>A	NP_001129490.1:n.364+114G>A
NM_001291163.1:c.364+114G>A	NP_001278092.1:n.364+114G>A
NM_000120.4:c.364+114G>A	NP_000111.1:n.364+114G>A
NM_001136018.4:c.364+114G>A MANE Select	NP_001129490.1:n.364+114G>A
NM_001291163.2:c.364+114G>A	NP_001278092.1:n.364+114G>A
NM_001378426.1:c.364+114G>A	NP_001365355.1:n.364+114G>A
NM_001378427.1:c.364+114G>A	NP_001365356.1:n.364+114G>A
NM_001378428.1:c.337+114G>A	NP_001365357.1:n.337+114G>A
NM_001378429.1:c.364+114G>A	NP_001365358.1:n.364+114G>A
NM_001378430.1:c.364+114G>A	NP_001365359.1:n.364+114G>A
NM_001378431.1:c.364+114G>A	NP_001365360.1:n.364+114G>A
NM_001378432.1:c.364+114G>A	NP_001365361.1:n.364+114G>A
NR_165624.1:n.369+160G>A
NR_165625.1:n.415+114G>A
NR_165626.1:n.861+114G>A
NR_165627.1:n.560+114G>A