Canonical Allele Identifier: CA39062110

Gene: EPHX1

Linked Data

• dbSNP Id: rs922436327
• gnomAD v4: 1-225831863-C-T
• MyVariant Identifiers: chr1:g.226019564C>T (hg19) ; chr1:g.225831863C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225831863C>T , CM000663.2:g.225831863C>T	GRCh38
NC_000001.10:g.226019564C>T , CM000663.1:g.226019564C>T	GRCh37
NC_000001.9:g.224086187C>T	NCBI36
NG_009776.1:g.26768C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272167.10:c.268C>T MANE Select	ENSP00000272167.5:p.Leu90=
ENST00000272167.9:c.268C>T	ENSP00000272167.5:p.Leu90=
ENST00000366837.5:c.268C>T	ENSP00000355802.4:p.Leu90=
ENST00000445856.5:c.268C>T	ENSP00000398491.1:p.Leu90=
ENST00000448202.5:c.268C>T	ENSP00000408469.1:p.Leu90=
ENST00000467015.1:n.155C>T
ENST00000614058.4:c.268C>T	ENSP00000480004.1:p.Leu90=
NM_000120.3:c.268C>T	NP_000111.1:p.Leu90=
NM_001136018.3:c.268C>T	NP_001129490.1:p.Leu90=
NM_001291163.1:c.268C>T	NP_001278092.1:p.Leu90=
NM_000120.4:c.268C>T	NP_000111.1:p.Leu90=
NM_001136018.4:c.268C>T MANE Select	NP_001129490.1:p.Leu90=
NM_001291163.2:c.268C>T	NP_001278092.1:p.Leu90=
NM_001378426.1:c.268C>T	NP_001365355.1:p.Leu90=
NM_001378427.1:c.268C>T	NP_001365356.1:p.Leu90=
NM_001378428.1:c.241C>T	NP_001365357.1:p.Leu81=
NM_001378429.1:c.268C>T	NP_001365358.1:p.Leu90=
NM_001378430.1:c.268C>T	NP_001365359.1:p.Leu90=
NM_001378431.1:c.268C>T	NP_001365360.1:p.Leu90=
NM_001378432.1:c.268C>T	NP_001365361.1:p.Leu90=
NR_165624.1:n.319C>T
NR_165625.1:n.319C>T
NR_165626.1:n.765C>T
NR_165627.1:n.464C>T