Canonical Allele Identifier: CA7520373

Gene: EPB42

Linked Data

• ClinVar Variation Id: 255148
• ClinVar RCV Id: RCV000249237 ; RCV000296485 ; RCV000899320
• dbSNP Id: rs45594632
• ExAC: 15:43499436 G / A
• gnomAD v2: 15-43499436-G-A
• gnomAD v3: 15-43207238-G-A
• gnomAD v4: 15-43207238-G-A
• MyVariant Identifiers: chr15:g.43499436G>A (hg19) ; chr15:g.43207238G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43207238G>A , CM000677.2:g.43207238G>A	GRCh38
NC_000015.9:g.43499436G>A , CM000677.1:g.43499436G>A	GRCh37
NC_000015.8:g.41286728G>A	NCBI36
NG_011505.1:g.18888C>T
NG_011505.2:g.23619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441366.7:c.1279C>T MANE Select	ENSP00000396616.2:p.Arg427Cys
ENST00000567019.2:n.785C>T
ENST00000648595.1:c.1369C>T	ENSP00000497777.1:p.Arg457Cys
ENST00000300215.7:c.1369C>T	ENSP00000300215.3:p.Arg457Cys
ENST00000441366.6:c.1279C>T	ENSP00000396616.2:p.Arg427Cys
ENST00000540029.5:c.1045C>T	ENSP00000444699.1:p.Arg349Cys
ENST00000565459.1:c.2C>T
ENST00000567019.1:n.794C>T
ENST00000568508.5:c.1138C>T	ENSP00000457140.1:p.Arg380Cys
ENST00000622454.4:c.1063C>T	ENSP00000481226.1:p.Arg355Cys
NM_000119.2:c.1369C>T	NP_000110.2:p.Arg457Cys
NM_001114134.1:c.1279C>T	NP_001107606.1:p.Arg427Cys
XM_005254225.1:c.1174C>T	XP_005254282.1:p.Arg392Cys
XM_011521349.1:c.1369C>T	XP_011519651.1:p.Arg457Cys
XM_011521350.1:c.1369C>T	XP_011519652.1:p.Arg457Cys
XM_011521351.1:c.1369C>T	XP_011519653.1:p.Arg457Cys
XM_011521352.1:c.1333C>T	XP_011519654.1:p.Arg445Cys
XM_011521353.1:c.1264C>T	XP_011519655.1:p.Arg422Cys
XM_011521354.1:c.814C>T	XP_011519656.1:p.Arg272Cys
NM_000119.3:c.1369C>T	NP_000110.2:p.Arg457Cys
XM_011521349.2:c.1369C>T	XP_011519651.1:p.Arg457Cys
XM_011521350.2:c.1369C>T	XP_011519652.1:p.Arg457Cys
XM_011521351.2:c.1369C>T	XP_011519653.1:p.Arg457Cys
XM_011521352.2:c.1333C>T	XP_011519654.1:p.Arg445Cys
XM_011521353.2:c.1264C>T	XP_011519655.1:p.Arg422Cys
XM_011521354.2:c.814C>T	XP_011519656.1:p.Arg272Cys
NM_001114134.2:c.1279C>T MANE Select	NP_001107606.1:p.Arg427Cys