Canonical Allele Identifier: CA7520335

Gene: EPB42

Linked Data

• ClinVar Variation Id: 316012
• ClinVar RCV Id: RCV000345535 ; RCV003718175
• dbSNP Id: rs199505318
• ExAC: 15:43498760 G / A
• gnomAD v2: 15-43498760-G-A
• gnomAD v3: 15-43206562-G-A
• gnomAD v4: 15-43206562-G-A
• MyVariant Identifiers: chr15:g.43498760G>A (hg19) ; chr15:g.43206562G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43206562G>A , CM000677.2:g.43206562G>A	GRCh38
NC_000015.9:g.43498760G>A , CM000677.1:g.43498760G>A	GRCh37
NC_000015.8:g.41286052G>A	NCBI36
NG_011505.1:g.19564C>T
NG_011505.2:g.24295C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441366.7:c.1386C>T MANE Select	ENSP00000396616.2:p.Asn462=
ENST00000567019.2:n.892C>T
ENST00000648595.1:c.1476C>T	ENSP00000497777.1:p.Asn492=
ENST00000300215.7:c.1476C>T	ENSP00000300215.3:p.Asn492=
ENST00000441366.6:c.1386C>T	ENSP00000396616.2:p.Asn462=
ENST00000540029.5:c.1152C>T	ENSP00000444699.1:p.Asn384=
ENST00000565459.1:c.109C>T
ENST00000567019.1:n.901C>T
ENST00000568508.5:c.1245C>T	ENSP00000457140.1:p.Asn415=
ENST00000622454.4:c.1170C>T	ENSP00000481226.1:p.Asn390=
NM_000119.2:c.1476C>T	NP_000110.2:p.Asn492=
NM_001114134.1:c.1386C>T	NP_001107606.1:p.Asn462=
XM_005254225.1:c.1281C>T	XP_005254282.1:p.Asn427=
XM_011521349.1:c.1476C>T	XP_011519651.1:p.Asn492=
XM_011521350.1:c.1476C>T	XP_011519652.1:p.Asn492=
XM_011521351.1:c.1476C>T	XP_011519653.1:p.Asn492=
XM_011521352.1:c.1440C>T	XP_011519654.1:p.Asn480=
XM_011521353.1:c.1371C>T	XP_011519655.1:p.Asn457=
XM_011521354.1:c.921C>T	XP_011519656.1:p.Asn307=
NM_000119.3:c.1476C>T	NP_000110.2:p.Asn492=
XM_011521349.2:c.1476C>T	XP_011519651.1:p.Asn492=
XM_011521350.2:c.1476C>T	XP_011519652.1:p.Asn492=
XM_011521351.2:c.1476C>T	XP_011519653.1:p.Asn492=
XM_011521352.2:c.1440C>T	XP_011519654.1:p.Asn480=
XM_011521353.2:c.1371C>T	XP_011519655.1:p.Asn457=
XM_011521354.2:c.921C>T	XP_011519656.1:p.Asn307=
NM_001114134.2:c.1386C>T MANE Select	NP_001107606.1:p.Asn462=