Canonical Allele Identifier: CA4183480

Gene: CDCA7L DNAH11

Linked Data

• ClinVar Variation Id: 359698
• ClinVar RCV Id: RCV000271471 ; RCV003437128
• dbSNP Id: rs72658836
• ExAC: 7:21940719 C / T
• gnomAD v2: 7-21940719-C-T
• gnomAD v3: 7-21901101-C-T
• gnomAD v4: 7-21901101-C-T
• COSMIC: COSM3025700 ; COSM4361692
• MyVariant Identifiers: chr7:g.21940719C>T (hg19) ; chr7:g.21901101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21901101C>T , CM000669.2:g.21901101C>T	GRCh38
NC_000007.13:g.21940719C>T , CM000669.1:g.21940719C>T	GRCh37
NC_000007.12:g.21907244C>T	NCBI36
NG_012886.2:g.362887C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406877.8:c.*1221G>A (CDCA7L) MANE Select	ENSP00000383986.3:n.*1221G>A
ENST00000409508.8:c.13398C>T (DNAH11) MANE Select	ENSP00000475939.1:p.Pro4466=
ENST00000328843.10:c.13419C>T (DNAH11)	ENSP00000330671.7:p.Pro4473=
ENST00000356195.9:c.*1221G>A (CDCA7L)	ENSP00000348523.5:n.*1221G>A
ENST00000406877.7:c.*1221G>A (CDCA7L)	ENSP00000383986.3:n.*1221G>A
ENST00000409508.7:c.13398C>T (DNAH11)	ENSP00000475939.1:p.Pro4466=
ENST00000479878.1:n.769C>T (DNAH11)
ENST00000488845.1:n.1743G>A (CDCA7L)
ENST00000620169.4:c.13419C>T (DNAH11)	ENSP00000481693.1:p.Pro4473=
NM_001127370.2:c.*1221G>A (CDCA7L)	NP_001120842.1:n.*1221G>A
NM_001127371.2:c.*1221G>A (CDCA7L)	NP_001120843.1:n.*1221G>A
NM_001277115.1:c.13398C>T (DNAH11)	NP_001264044.1:p.Pro4466=
NM_018719.4:c.*1221G>A (CDCA7L)	NP_061189.2:n.*1221G>A
NM_001277115.2:c.13398C>T (DNAH11) MANE Select	NP_001264044.1:p.Pro4466=
NM_018719.5:c.*1221G>A (CDCA7L) MANE Select	NP_061189.2:n.*1221G>A
NM_001127370.3:c.*1221G>A (CDCA7L)	NP_001120842.1:n.*1221G>A
NM_001127371.3:c.*1221G>A (CDCA7L)	NP_001120843.1:n.*1221G>A