Canonical Allele Identifier: CA340594

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 6475
• ClinVar RCV Id: RCV000006848 ; RCV002362568
• dbSNP Id: rs121908855
• ExAC: 7:21920487 C / G
• gnomAD v2: 7-21920487-C-G
• gnomAD v3: 7-21880869-C-G
• gnomAD v4: 7-21880869-C-G
• MyVariant Identifiers: chr7:g.21920487C>G (hg19) ; chr7:g.21880869C>G (hg38)
• PubMed: PMID:18022865 ; PMID:20301301

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