Canonical Allele Identifier: CA12604177

Gene: EPHB4

Linked Data

• dbSNP Id: rs314308
• gnomAD v2: 7-100420878-C-T
• gnomAD v3: 7-100823256-C-T
• gnomAD v4: 7-100823256-C-T
• MyVariant Identifiers: chr7:g.100420878C>T (hg19) ; chr7:g.100823256C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100823256C>T , CM000669.2:g.100823256C>T	GRCh38
NC_000007.13:g.100420878C>T , CM000669.1:g.100420878C>T	GRCh37
NC_000007.12:g.100258814C>T	NCBI36
NG_052671.1:g.9266G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358173.8:c.411+388G>A MANE Select	ENSP00000350896.3:n.411+388G>A
ENST00000358173.7:c.411+388G>A	ENSP00000350896.3:n.411+388G>A
ENST00000360620.7:c.411+388G>A	ENSP00000353833.3:n.411+388G>A
ENST00000477446.5:n.411+388G>A
ENST00000487222.5:n.1612+388G>A
ENST00000489808.1:n.411+388G>A
ENST00000616502.4:c.411+388G>A	ENSP00000482702.1:n.411+388G>A
NM_004444.4:c.411+388G>A	NP_004435.3:n.411+388G>A
XM_017011816.1:c.411+388G>A	XP_016867305.1:n.411+388G>A
NM_004444.5:c.411+388G>A MANE Select	NP_004435.3:n.411+388G>A