Canonical Allele Identifier: CA7520469

Gene: EPB42

Linked Data

• ClinVar Variation Id: 255158
• ClinVar RCV Id: RCV000242547 ; RCV000971039 ; RCV001120392
• dbSNP Id: rs35719500
• ExAC: 15:43500912 G / A
• gnomAD v2: 15-43500912-G-A
• gnomAD v3: 15-43208714-G-A
• gnomAD v4: 15-43208714-G-A
• MyVariant Identifiers: chr15:g.43500912G>A (hg19) ; chr15:g.43208714G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43208714G>A , CM000677.2:g.43208714G>A	GRCh38
NC_000015.9:g.43500912G>A , CM000677.1:g.43500912G>A	GRCh37
NC_000015.8:g.41288204G>A	NCBI36
NG_011505.1:g.17412C>T
NG_011505.2:g.22143C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441366.7:c.894C>T MANE Select	ENSP00000396616.2:p.Thr298=
ENST00000567019.2:n.400C>T
ENST00000648595.1:c.984C>T	ENSP00000497777.1:p.Thr328=
ENST00000300215.7:c.984C>T	ENSP00000300215.3:p.Thr328=
ENST00000441366.6:c.894C>T	ENSP00000396616.2:p.Thr298=
ENST00000540029.5:c.660C>T	ENSP00000444699.1:p.Thr220=
ENST00000567019.1:n.409C>T
ENST00000568508.5:c.753C>T	ENSP00000457140.1:p.Thr251=
ENST00000569204.1:c.453C>T	ENSP00000455489.1:p.Thr151=
ENST00000622454.4:c.894C>T	ENSP00000481226.1:p.Thr298=
NM_000119.2:c.984C>T	NP_000110.2:p.Thr328=
NM_001114134.1:c.894C>T	NP_001107606.1:p.Thr298=
XM_005254225.1:c.789C>T	XP_005254282.1:p.Thr263=
XM_011521349.1:c.984C>T	XP_011519651.1:p.Thr328=
XM_011521350.1:c.984C>T	XP_011519652.1:p.Thr328=
XM_011521351.1:c.984C>T	XP_011519653.1:p.Thr328=
XM_011521352.1:c.948C>T	XP_011519654.1:p.Thr316=
XM_011521353.1:c.879C>T	XP_011519655.1:p.Thr293=
XM_011521354.1:c.429C>T	XP_011519656.1:p.Thr143=
NM_000119.3:c.984C>T	NP_000110.2:p.Thr328=
XM_011521349.2:c.984C>T	XP_011519651.1:p.Thr328=
XM_011521350.2:c.984C>T	XP_011519652.1:p.Thr328=
XM_011521351.2:c.984C>T	XP_011519653.1:p.Thr328=
XM_011521352.2:c.948C>T	XP_011519654.1:p.Thr316=
XM_011521353.2:c.879C>T	XP_011519655.1:p.Thr293=
XM_011521354.2:c.429C>T	XP_011519656.1:p.Thr143=
NM_001114134.2:c.894C>T MANE Select	NP_001107606.1:p.Thr298=