Canonical Allele Identifier: CA453966689
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2719838
ClinVar RCV Id: RCV003537860
dbSNP Id: rs1292469149
gnomAD v2: 7-21856252-A-G
gnomAD v4: 7-21816634-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816634A>G , CM000669.2:g.21816634A>G GRCh38
NC_000007.13:g.21856252A>G , CM000669.1:g.21856252A>G GRCh37
NC_000007.12:g.21822777A>G NCBI36
NG_012886.2:g.278420A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10500A>G MANE Select ENSP00000475939.1:p.Gln3500=
ENST00000328843.10:c.10521A>G ENSP00000330671.7:p.Gln3507=
ENST00000409508.7:c.10500A>G ENSP00000475939.1:p.Gln3500=
ENST00000620169.4:c.10521A>G ENSP00000481693.1:p.Gln3507=
NM_001277115.1:c.10500A>G NP_001264044.1:p.Gln3500=
NM_001277115.2:c.10500A>G MANE Select NP_001264044.1:p.Gln3500=