Canonical Allele Identifier: CA3479292

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 259674
• ClinVar RCV Id: RCV000247529 ; RCV001517682 ; RCV001660272 ; RCV001668510 ; RCV001660273
• dbSNP Id: rs2302103
• ExAC: 5:140955777 C / T
• gnomAD v2: 5-140955777-C-T
• gnomAD v3: 5-141576210-C-T
• gnomAD v4: 5-141576210-C-T
• MyVariant Identifiers: chr5:g.140955777C>T (hg19) ; chr5:g.141576210C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141576210C>T , CM000667.2:g.141576210C>T	GRCh38
NC_000005.9:g.140955777C>T , CM000667.1:g.140955777C>T	GRCh37
NC_000005.8:g.140935961C>T	NCBI36
NG_011594.1:g.47846G>A
NG_011594.2:g.47846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1461+20G>A MANE Select	ENSP00000373706.4:n.1461+20G>A
ENST00000647330.1:c.1438+20G>A	ENSP00000494308.1:n.1438+20G>A
ENST00000647433.1:c.1461+20G>A	ENSP00000494675.1:n.1461+20G>A
ENST00000253811.10:c.1329+20G>A	ENSP00000253811.7:n.1329+20G>A
ENST00000389054.7:c.1461+20G>A	ENSP00000373706.4:n.1461+20G>A
ENST00000389057.9:c.1434+20G>A	ENSP00000373709.6:n.1434+20G>A
ENST00000398557.8:c.1461+20G>A	ENSP00000381565.5:n.1461+20G>A
ENST00000518047.5:c.1434+20G>A	ENSP00000428268.2:n.1434+20G>A
NM_001079812.2:c.1434+20G>A	NP_001073280.1:n.1434+20G>A
NM_001314007.1:c.1461+20G>A	NP_001300936.1:n.1461+20G>A
NM_005219.4:c.1461+20G>A	NP_005210.3:n.1461+20G>A
XM_011537572.1:c.1425+20G>A	XP_011535874.1:n.1425+20G>A
XM_011537573.1:c.1395+20G>A	XP_011535875.1:n.1395+20G>A
XM_024454384.1:c.1461+20G>A	XP_024310152.1:n.1461+20G>A
XM_024454385.1:c.1434+20G>A	XP_024310153.1:n.1434+20G>A
XM_024454386.1:c.1425+20G>A	XP_024310154.1:n.1425+20G>A
XM_024454387.1:c.1395+20G>A	XP_024310155.1:n.1395+20G>A
NM_005219.5:c.1461+20G>A MANE Select	NP_005210.3:n.1461+20G>A
NM_001079812.3:c.1434+20G>A	NP_001073280.1:n.1434+20G>A
NM_001314007.2:c.1461+20G>A	NP_001300936.1:n.1461+20G>A