Canonical Allele Identifier: CA10623008

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 351277
• ClinVar RCV Id: RCV000393373
• dbSNP Id: rs144081334
• gnomAD v2: 5-140895800-C-G
• gnomAD v3: 5-141516233-C-G
• gnomAD v4: 5-141516233-C-G
• MyVariant Identifiers: chr5:g.140895800C>G (hg19) ; chr5:g.141516233C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141516233C>G , CM000667.2:g.141516233C>G	GRCh38
NC_000005.9:g.140895800C>G , CM000667.1:g.140895800C>G	GRCh37
NC_000005.8:g.140875984C>G	NCBI36
NG_011594.1:g.107823G>C
NG_011594.2:g.107823G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389054.8:c.*618G>C MANE Select	ENSP00000373706.4:n.*618G>C
ENST00000448451.6:c.*618G>C	ENSP00000408159.2:n.*618G>C
ENST00000643718.1:n.1068G>C
ENST00000647433.1:c.*737G>C	ENSP00000494675.1:n.*737G>C
ENST00000253811.10:c.*618G>C	ENSP00000253811.7:n.*618G>C
ENST00000389054.7:c.*618G>C	ENSP00000373706.4:n.*618G>C
ENST00000389057.9:c.*618G>C	ENSP00000373709.6:n.*618G>C
ENST00000398557.8:c.*618G>C	ENSP00000381565.5:n.*618G>C
ENST00000448451.5:c.1026G>C
ENST00000476339.1:n.1389G>C
ENST00000518047.5:c.4410G>C	ENSP00000428268.2:n.4410G>C
NM_001079812.2:c.*618G>C	NP_001073280.1:n.*618G>C
NM_001314007.1:c.*737G>C	NP_001300936.1:n.*737G>C
NM_005219.4:c.*618G>C	NP_005210.3:n.*618G>C
XM_011537572.1:c.*618G>C	XP_011535874.1:n.*618G>C
XM_011537573.1:c.*618G>C	XP_011535875.1:n.*618G>C
XM_024454384.1:c.*618G>C	XP_024310152.1:n.*618G>C
XM_024454385.1:c.*618G>C	XP_024310153.1:n.*618G>C
XM_024454386.1:c.*618G>C	XP_024310154.1:n.*618G>C
XM_024454387.1:c.*618G>C	XP_024310155.1:n.*618G>C
NM_005219.5:c.*618G>C MANE Select	NP_005210.3:n.*618G>C
NM_001079812.3:c.*618G>C	NP_001073280.1:n.*618G>C
NM_001314007.2:c.*737G>C	NP_001300936.1:n.*737G>C