Canonical Allele Identifier: CA453963491
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1041750
ClinVar RCV Id: RCV001345605
dbSNP Id: rs1162778746
gnomAD v4: 7-21599960-A-G
COSMIC: COSM3880134 COSM3880135
MyVariant Identifiers: chr7:g.21639578A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599960A>G , CM000669.2:g.21599960A>G GRCh38
NC_000007.13:g.21639578A>G , CM000669.1:g.21639578A>G GRCh37
NC_000007.12:g.21606103A>G NCBI36
NG_012886.2:g.61746A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.2841A>G MANE Select ENSP00000475939.1:p.Gln947=
ENST00000328843.10:c.2841A>G ENSP00000330671.7:p.Gln947=
ENST00000409508.7:c.2841A>G ENSP00000475939.1:p.Gln947=
ENST00000620169.4:c.2841A>G ENSP00000481693.1:p.Gln947=
NM_001277115.1:c.2841A>G NP_001264044.1:p.Gln947=
NM_001277115.2:c.2841A>G MANE Select NP_001264044.1:p.Gln947=
Search 100 bp 5'
Search 100 bp 3'