Canonical Allele Identifier: CA4181369

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257932
• ClinVar RCV Id: RCV000242330 ; RCV000514259 ; RCV002058025
• dbSNP Id: rs147865931
• ExAC: 7:21779171 C / G
• gnomAD v2: 7-21779171-C-G
• gnomAD v3: 7-21739553-C-G
• gnomAD v4: 7-21739553-C-G
• MyVariant Identifiers: chr7:g.21779171C>G (hg19) ; chr7:g.21739553C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21739553C>G , CM000669.2:g.21739553C>G	GRCh38
NC_000007.13:g.21779171C>G , CM000669.1:g.21779171C>G	GRCh37
NC_000007.12:g.21745696C>G	NCBI36
NG_012886.2:g.201339C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.7812-18C>G MANE Select	ENSP00000475939.1:n.7812-18C>G
ENST00000328843.10:c.7833-18C>G	ENSP00000330671.7:n.7833-18C>G
ENST00000409508.7:c.7812-18C>G	ENSP00000475939.1:n.7812-18C>G
ENST00000605912.1:c.372-18C>G	ENSP00000476068.1:n.372-18C>G
ENST00000620169.4:c.7833-18C>G	ENSP00000481693.1:n.7833-18C>G
NM_001277115.1:c.7812-18C>G	NP_001264044.1:n.7812-18C>G
NM_001277115.2:c.7812-18C>G MANE Select	NP_001264044.1:n.7812-18C>G