Canonical Allele Identifier: CA4182626
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs764824731
gnomAD v2: 7-21894004-A-G
gnomAD v4: 7-21854386-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21854386A>G , CM000669.2:g.21854386A>G GRCh38
NC_000007.13:g.21894004A>G , CM000669.1:g.21894004A>G GRCh37
NC_000007.12:g.21860529A>G NCBI36
NG_012886.2:g.316172A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.11133A>G MANE Select ENSP00000475939.1:p.Arg3711=
ENST00000328843.10:c.11154A>G ENSP00000330671.7:p.Arg3718=
ENST00000409508.7:c.11133A>G ENSP00000475939.1:p.Arg3711=
ENST00000421290.1:n.316A>G
ENST00000607413.5:n.396A>G
ENST00000620169.4:c.11154A>G ENSP00000481693.1:p.Arg3718=
NM_001277115.1:c.11133A>G NP_001264044.1:p.Arg3711=
NM_001277115.2:c.11133A>G MANE Select NP_001264044.1:p.Arg3711=