Canonical Allele Identifier: CA340594
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 6475
dbSNP Id: rs121908855
gnomAD v2: 7-21920487-C-G
gnomAD v3: 7-21880869-C-G
gnomAD v4: 7-21880869-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880869C>G , CM000669.2:g.21880869C>G GRCh38
NC_000007.13:g.21920487C>G , CM000669.1:g.21920487C>G GRCh37
NC_000007.12:g.21887012C>G NCBI36
NG_012886.2:g.342655C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.12363C>G MANE Select ENSP00000475939.1:p.Tyr4121Ter
ENST00000328843.10:c.12384C>G ENSP00000330671.7:p.Tyr4128Ter
ENST00000409508.7:c.12363C>G ENSP00000475939.1:p.Tyr4121Ter
ENST00000620169.4:c.12384C>G ENSP00000481693.1:p.Tyr4128Ter
NM_001277115.1:c.12363C>G NP_001264044.1:p.Tyr4121Ter
NM_001277115.2:c.12363C>G MANE Select NP_001264044.1:p.Tyr4121Ter