Canonical Allele Identifier: CA3478723

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 1205707
• ClinVar RCV Id: RCV001572451
• dbSNP Id: rs75229850
• ExAC: 5:140903676 C / T
• gnomAD v2: 5-140903676-C-T
• gnomAD v3: 5-141524109-C-T
• gnomAD v4: 5-141524109-C-T
• MyVariant Identifiers: chr5:g.140903676C>T (hg19) ; chr5:g.141524109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524109C>T , CM000667.2:g.141524109C>T	GRCh38
NC_000005.9:g.140903676C>T , CM000667.1:g.140903676C>T	GRCh37
NC_000005.8:g.140883860C>T	NCBI36
NG_011594.1:g.99947G>A
NG_011594.2:g.99947G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3661+34G>A MANE Select	ENSP00000373706.4:n.3661+34G>A
ENST00000448451.6:c.67+34G>A	ENSP00000408159.2:n.67+34G>A
ENST00000643312.1:c.67+34G>A	ENSP00000495191.1:n.67+34G>A
ENST00000643718.1:n.141+34G>A
ENST00000647433.1:c.3661+34G>A	ENSP00000494675.1:n.3661+34G>A
ENST00000253811.10:c.3529+34G>A	ENSP00000253811.7:n.3529+34G>A
ENST00000389054.7:c.3661+34G>A	ENSP00000373706.4:n.3661+34G>A
ENST00000389057.9:c.3634+34G>A	ENSP00000373709.6:n.3634+34G>A
ENST00000398557.8:c.3661+34G>A	ENSP00000381565.5:n.3661+34G>A
ENST00000448451.5:c.197+34G>A
ENST00000468119.3:n.182+34G>A
ENST00000476339.1:n.613+34G>A
ENST00000518047.5:c.3634+34G>A	ENSP00000428268.2:n.3634+34G>A
NM_001079812.2:c.3634+34G>A	NP_001073280.1:n.3634+34G>A
NM_001314007.1:c.3661+34G>A	NP_001300936.1:n.3661+34G>A
NM_005219.4:c.3661+34G>A	NP_005210.3:n.3661+34G>A
XM_011537572.1:c.3625+34G>A	XP_011535874.1:n.3625+34G>A
XM_011537573.1:c.3595+34G>A	XP_011535875.1:n.3595+34G>A
XM_024454384.1:c.3784+34G>A	XP_024310152.1:n.3784+34G>A
XM_024454385.1:c.3757+34G>A	XP_024310153.1:n.3757+34G>A
XM_024454386.1:c.3748+34G>A	XP_024310154.1:n.3748+34G>A
XM_024454387.1:c.3718+34G>A	XP_024310155.1:n.3718+34G>A
NM_005219.5:c.3661+34G>A MANE Select	NP_005210.3:n.3661+34G>A
NM_001079812.3:c.3634+34G>A	NP_001073280.1:n.3634+34G>A
NM_001314007.2:c.3661+34G>A	NP_001300936.1:n.3661+34G>A