Canonical Allele Identifier: CA4178836
Gene: DNAH11 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.21561182G>A
GRCh37 chr7:g.21600800G>A
gnomAD v2:
7:21600800 G / A
gnomAD v3:
7:21561182 G / A
gnomAD v4:
chr7-21561182-G-A
Joint Max Group AF 0.00138231 (SAS)
Genomes Max Group AF 0.00028344 (SAS)
Exomes Max Group AF 0.00141882 (SAS)
ClinVar Allele:
310503
ClinVar RCV:
RCV000351221
ClinVar Variation:
359602
dbSNP:
546259810
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21561182G>A , CM000669.2:g.21561182G>A GRCh38
NC_000007.13:g.21600800G>A , CM000669.1:g.21600800G>A GRCh37
NC_000007.12:g.21567325G>A NCBI36
NG_012886.2:g.22968G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.982+12G>A MANE Select ENSP00000475939.1:n.982+12G>A
ENST00000328843.10:c.982+12G>A ENSP00000330671.7:n.982+12G>A
ENST00000409508.7:c.982+12G>A ENSP00000475939.1:n.982+12G>A
ENST00000483691.1:n.190G>A
ENST00000496218.1:n.80+12G>A
ENST00000620169.4:c.982+12G>A ENSP00000481693.1:n.982+12G>A
NM_001277115.1:c.982+12G>A NP_001264044.1:n.982+12G>A
XR_927090.1:n.564-942C>T
XR_001745114.1:n.2794-942C>T
NM_001277115.2:c.982+12G>A MANE Select NP_001264044.1:n.982+12G>A
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