Canonical Allele Identifier: CA1099227929
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1789825969
gnomAD v3: 7-21817064-T-G
gnomAD v4: 7-21817064-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21817064T>G , CM000669.2:g.21817064T>G GRCh38
NC_000007.13:g.21856682T>G , CM000669.1:g.21856682T>G GRCh37
NC_000007.12:g.21823207T>G NCBI36
NG_012886.2:g.278850T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10568+362T>G MANE Select ENSP00000475939.1:n.10568+362T>G
ENST00000328843.10:c.10589+362T>G ENSP00000330671.7:n.10589+362T>G
ENST00000409508.7:c.10568+362T>G ENSP00000475939.1:n.10568+362T>G
ENST00000620169.4:c.10589+362T>G ENSP00000481693.1:n.10589+362T>G
NM_001277115.1:c.10568+362T>G NP_001264044.1:n.10568+362T>G
NM_001277115.2:c.10568+362T>G MANE Select NP_001264044.1:n.10568+362T>G
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