Canonical Allele Identifier: CA16294059
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1272593
ClinVar RCV Id: RCV001686749
dbSNP Id: rs6461586
gnomAD v2: 7-21639818-T-C
gnomAD v3: 7-21600200-T-C
gnomAD v4: 7-21600200-T-C
MyVariant Identifiers: chr7:g.21639818T>C (hg19) chr7:g.21600200T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21600200T>C , CM000669.2:g.21600200T>C GRCh38
NC_000007.13:g.21639818T>C , CM000669.1:g.21639818T>C GRCh37
NC_000007.12:g.21606343T>C NCBI36
NG_012886.2:g.61986T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.3000+81T>C MANE Select ENSP00000475939.1:n.3000+81T>C
ENST00000328843.10:c.3000+81T>C ENSP00000330671.7:n.3000+81T>C
ENST00000409508.7:c.3000+81T>C ENSP00000475939.1:n.3000+81T>C
ENST00000620169.4:c.3000+81T>C ENSP00000481693.1:n.3000+81T>C
NM_001277115.1:c.3000+81T>C NP_001264044.1:n.3000+81T>C
NM_001277115.2:c.3000+81T>C MANE Select NP_001264044.1:n.3000+81T>C
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