Canonical Allele Identifier: CA366930940
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 454666
dbSNP Id: rs1162526607
gnomAD v2: 7-21582864-A-G
gnomAD v3: 7-21543246-A-G
gnomAD v4: 7-21543246-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21543246A>G , CM000669.2:g.21543246A>G GRCh38
NC_000007.13:g.21582864A>G , CM000669.1:g.21582864A>G GRCh37
NC_000007.12:g.21549389A>G NCBI36
NG_012886.2:g.5032A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.1A>G MANE Select ENSP00000475939.1:p.Met1Val
ENST00000328843.10:c.1A>G ENSP00000330671.7:p.Met1Val
ENST00000409508.7:c.1A>G ENSP00000475939.1:p.Met1Val
ENST00000620169.4:c.1A>G ENSP00000481693.1:p.Met1Val
NM_001277115.1:c.1A>G NP_001264044.1:p.Met1Val
NM_001277115.2:c.1A>G MANE Select NP_001264044.1:p.Met1Val