Canonical Allele Identifier: CA366944323
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1795769
ClinVar RCV Id: RCV002439579
dbSNP Id: rs1583516086
gnomAD v4: 7-21599888-A-G
MyVariant Identifiers: chr7:g.21639506A>G (hg19) chr7:g.21599888A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599888A>G , CM000669.2:g.21599888A>G GRCh38
NC_000007.13:g.21639506A>G , CM000669.1:g.21639506A>G GRCh37
NC_000007.12:g.21606031A>G NCBI36
NG_012886.2:g.61674A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2769A>G MANE Select ENSP00000475939.1:p.Ile923Met
ENST00000328843.10:c.2769A>G ENSP00000330671.7:p.Ile923Met
ENST00000409508.7:c.2769A>G ENSP00000475939.1:p.Ile923Met
ENST00000620169.4:c.2769A>G ENSP00000481693.1:p.Ile923Met
NM_001277115.1:c.2769A>G NP_001264044.1:p.Ile923Met
NM_001277115.2:c.2769A>G MANE Select NP_001264044.1:p.Ile923Met
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Search 100 bp 3'