Canonical Allele Identifier: CA12476873

Gene: EPHB4

Linked Data

• dbSNP Id: rs314313
• gnomAD v2: 7-100423365-T-C
• gnomAD v3: 7-100825743-T-C
• gnomAD v4: 7-100825743-T-C
• MyVariant Identifiers: chr7:g.100423365T>C (hg19) ; chr7:g.100825743T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100825743T>C , CM000669.2:g.100825743T>C	GRCh38
NC_000007.13:g.100423365T>C , CM000669.1:g.100423365T>C	GRCh37
NC_000007.12:g.100261301T>C	NCBI36
NG_052671.1:g.6779A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358173.8:c.52+1236A>G MANE Select	ENSP00000350896.3:n.52+1236A>G
ENST00000358173.7:c.52+1236A>G	ENSP00000350896.3:n.52+1236A>G
ENST00000360620.7:c.52+1236A>G	ENSP00000353833.3:n.52+1236A>G
ENST00000477446.5:n.52+1236A>G
ENST00000489808.1:n.52+1236A>G
ENST00000616502.4:c.52+1236A>G	ENSP00000482702.1:n.52+1236A>G
NM_004444.4:c.52+1236A>G	NP_004435.3:n.52+1236A>G
XM_017011816.1:c.52+1236A>G	XP_016867305.1:n.52+1236A>G
NM_004444.5:c.52+1236A>G MANE Select	NP_004435.3:n.52+1236A>G