Canonical Allele Identifier: CA4393022

Gene: EPHB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100818611C>A , CM000669.2:g.100818611C>A	GRCh38
NC_000007.13:g.100416233C>A , CM000669.1:g.100416233C>A	GRCh37
NC_000007.12:g.100254169C>A	NCBI36
NG_052671.1:g.13911G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004444.5:c.1331G>T MANE Select	NP_004435.3:p.Arg444Leu
ENST00000358173.8:c.1331G>T MANE Select	ENSP00000350896.3:p.Arg444Leu
NM_004444.4:c.1331G>T	NP_004435.3:p.Arg444Leu
ENST00000358173.7:c.1331G>T	ENSP00000350896.3:p.Arg444Leu
ENST00000360620.7:c.1331G>T	ENSP00000353833.3:p.Arg444Leu
ENST00000477446.5:n.1331G>T
ENST00000487222.5:n.2532G>T
ENST00000489808.1:n.809-1254G>T
ENST00000492878.1:n.709G>T
ENST00000616502.4:c.809-1254G>T	ENSP00000482702.1:n.809-1254G>T
XM_017011816.1:c.1385G>T	XP_016867305.1:p.Arg462Leu