Canonical Allele Identifier: CA135747

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 45212
• ClinVar RCV Id: RCV000038367 ; RCV000290333 ; RCV001636625 ; RCV001515786
• dbSNP Id: rs2074913
• ExAC: 5:140998351 G / A
• gnomAD v2: 5-140998351-G-A
• gnomAD v3: 5-141618784-G-A
• gnomAD v4: 5-141618784-G-A
• MyVariant Identifiers: chr5:g.140998351G>A (hg19) ; chr5:g.141618784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141618784G>A , CM000667.2:g.141618784G>A	GRCh38
NC_000005.9:g.140998351G>A , CM000667.1:g.140998351G>A	GRCh37
NC_000005.8:g.140978535G>A	NCBI36
NG_011594.1:g.5272C>T
NG_011594.2:g.5272C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.117+14C>T MANE Select	ENSP00000373706.4:n.117+14C>T
ENST00000647433.1:c.117+14C>T	ENSP00000494675.1:n.117+14C>T
ENST00000253811.10:c.-16+14C>T	ENSP00000253811.7:n.-16+14C>T
ENST00000389054.7:c.117+14C>T	ENSP00000373706.4:n.117+14C>T
ENST00000389057.9:c.117+14C>T	ENSP00000373709.6:n.117+14C>T
ENST00000398557.8:c.117+14C>T	ENSP00000381565.5:n.117+14C>T
ENST00000518047.5:c.117+14C>T	ENSP00000428268.2:n.117+14C>T
ENST00000523100.5:c.117+14C>T	ENSP00000428208.1:n.117+14C>T
NM_001079812.2:c.117+14C>T	NP_001073280.1:n.117+14C>T
NM_001314007.1:c.117+14C>T	NP_001300936.1:n.117+14C>T
NM_005219.4:c.117+14C>T	NP_005210.3:n.117+14C>T
XR_427789.2:n.230+295G>A
XM_024454384.1:c.117+14C>T	XP_024310152.1:n.117+14C>T
XM_024454385.1:c.117+14C>T	XP_024310153.1:n.117+14C>T
NM_005219.5:c.117+14C>T MANE Select	NP_005210.3:n.117+14C>T
NM_001079812.3:c.117+14C>T	NP_001073280.1:n.117+14C>T
NM_001314007.2:c.117+14C>T	NP_001300936.1:n.117+14C>T