Canonical Allele Identifier: CA4182317
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs776168146
gnomAD v2: 7-21847660-A-G
gnomAD v4: 7-21808042-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21808042A>G , CM000669.2:g.21808042A>G GRCh38
NC_000007.13:g.21847660A>G , CM000669.1:g.21847660A>G GRCh37
NC_000007.12:g.21814185A>G NCBI36
NG_012886.2:g.269828A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10325A>G MANE Select ENSP00000475939.1:p.Gln3442Arg
ENST00000328843.10:c.10346A>G ENSP00000330671.7:p.Gln3449Arg
ENST00000409508.7:c.10325A>G ENSP00000475939.1:p.Gln3442Arg
ENST00000620169.4:c.10346A>G ENSP00000481693.1:p.Gln3449Arg
NM_001277115.1:c.10325A>G NP_001264044.1:p.Gln3442Arg
NM_001277115.2:c.10325A>G MANE Select NP_001264044.1:p.Gln3442Arg