Canonical Allele Identifier: CA454139706
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 759236
ClinVar RCV Id: RCV001428774
dbSNP Id: rs780784315
gnomAD v2: 7-21675695-G-C
gnomAD v4: 7-21636077-G-C
MyVariant Identifiers: chr7:g.21675695G>C (hg19) chr7:g.21636077G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21636077G>C , CM000669.2:g.21636077G>C GRCh38
NC_000007.13:g.21675695G>C , CM000669.1:g.21675695G>C GRCh37
NC_000007.12:g.21642220G>C NCBI36
NG_012886.2:g.97863G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4707G>C MANE Select ENSP00000475939.1:p.Gly1569=
ENST00000328843.10:c.4722G>C ENSP00000330671.7:p.Gly1574=
ENST00000409508.7:c.4707G>C ENSP00000475939.1:p.Gly1569=
ENST00000465593.1:n.733G>C
ENST00000620169.4:c.4722G>C ENSP00000481693.1:p.Gly1574=
NM_001277115.1:c.4707G>C NP_001264044.1:p.Gly1569=
NM_001277115.2:c.4707G>C MANE Select NP_001264044.1:p.Gly1569=
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