Canonical Allele Identifier: CA453966337
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2726010
ClinVar RCV Id: RCV003538966
dbSNP Id: rs1243329120
gnomAD v2: 7-21847667-G-A
gnomAD v3: 7-21808049-G-A
gnomAD v4: 7-21808049-G-A
COSMIC: COSM3698337 COSM3698338
MyVariant Identifiers: chr7:g.21847667G>A (hg19) chr7:g.21808049G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21808049G>A , CM000669.2:g.21808049G>A GRCh38
NC_000007.13:g.21847667G>A , CM000669.1:g.21847667G>A GRCh37
NC_000007.12:g.21814192G>A NCBI36
NG_012886.2:g.269835G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10332G>A MANE Select ENSP00000475939.1:p.Lys3444=
ENST00000328843.10:c.10353G>A ENSP00000330671.7:p.Lys3451=
ENST00000409508.7:c.10332G>A ENSP00000475939.1:p.Lys3444=
ENST00000620169.4:c.10353G>A ENSP00000481693.1:p.Lys3451=
NM_001277115.1:c.10332G>A NP_001264044.1:p.Lys3444=
NM_001277115.2:c.10332G>A MANE Select NP_001264044.1:p.Lys3444=
Search 100 bp 5'
Search 100 bp 3'