Canonical Allele Identifier: CA454139679
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1786849538
gnomAD v4: 7-21636044-C-T
MyVariant Identifiers: chr7:g.21675662C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21636044C>T , CM000669.2:g.21636044C>T GRCh38
NC_000007.13:g.21675662C>T , CM000669.1:g.21675662C>T GRCh37
NC_000007.12:g.21642187C>T NCBI36
NG_012886.2:g.97830C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4674C>T MANE Select ENSP00000475939.1:p.Ile1558=
ENST00000328843.10:c.4689C>T ENSP00000330671.7:p.Ile1563=
ENST00000409508.7:c.4674C>T ENSP00000475939.1:p.Ile1558=
ENST00000465593.1:n.700C>T
ENST00000620169.4:c.4689C>T ENSP00000481693.1:p.Ile1563=
NM_001277115.1:c.4674C>T NP_001264044.1:p.Ile1558=
NM_001277115.2:c.4674C>T MANE Select NP_001264044.1:p.Ile1558=
Search 100 bp 5'
Search 100 bp 3'