Canonical Allele Identifier: CA4178834

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257943
• ClinVar RCV Id: RCV000244153 ; RCV001491307 ; RCV002466480
• dbSNP Id: rs72655978
• ExAC: 7:21600796 T / A
• gnomAD v2: 7-21600796-T-A
• gnomAD v3: 7-21561178-T-A
• gnomAD v4: 7-21561178-T-A
• MyVariant Identifiers: chr7:g.21600796T>A (hg19) ; chr7:g.21561178T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21561178T>A , CM000669.2:g.21561178T>A	GRCh38
NC_000007.13:g.21600796T>A , CM000669.1:g.21600796T>A	GRCh37
NC_000007.12:g.21567321T>A	NCBI36
NG_012886.2:g.22964T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.982+8T>A MANE Select	ENSP00000475939.1:n.982+8T>A
ENST00000328843.10:c.982+8T>A	ENSP00000330671.7:n.982+8T>A
ENST00000409508.7:c.982+8T>A	ENSP00000475939.1:n.982+8T>A
ENST00000483691.1:n.186T>A
ENST00000496218.1:n.80+8T>A
ENST00000620169.4:c.982+8T>A	ENSP00000481693.1:n.982+8T>A
NM_001277115.1:c.982+8T>A	NP_001264044.1:n.982+8T>A
XR_927090.1:n.564-938A>T
XR_001745114.1:n.2794-938A>T
NM_001277115.2:c.982+8T>A MANE Select	NP_001264044.1:n.982+8T>A