Canonical Allele Identifier: CA366943948
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1289397900
gnomAD v3: 7-21599835-A-G
gnomAD v4: 7-21599835-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599835A>G , CM000669.2:g.21599835A>G GRCh38
NC_000007.13:g.21639453A>G , CM000669.1:g.21639453A>G GRCh37
NC_000007.12:g.21605978A>G NCBI36
NG_012886.2:g.61621A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2716A>G MANE Select ENSP00000475939.1:p.Ile906Val
ENST00000328843.10:c.2716A>G ENSP00000330671.7:p.Ile906Val
ENST00000409508.7:c.2716A>G ENSP00000475939.1:p.Ile906Val
ENST00000620169.4:c.2716A>G ENSP00000481693.1:p.Ile906Val
NM_001277115.1:c.2716A>G NP_001264044.1:p.Ile906Val
NM_001277115.2:c.2716A>G MANE Select NP_001264044.1:p.Ile906Val