Canonical Allele Identifier: CA4180934

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 226588
• ClinVar RCV Id: RCV000216890 ; RCV000326898 ; RCV002227095 ; RCV001530718
• dbSNP Id: rs17145077
• ExAC: 7:21747466 C / G
• gnomAD v2: 7-21747466-C-G
• gnomAD v3: 7-21707848-C-G
• gnomAD v4: 7-21707848-C-G
• MyVariant Identifiers: chr7:g.21747466C>G (hg19) ; chr7:g.21707848C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21707848C>G , CM000669.2:g.21707848C>G	GRCh38
NC_000007.13:g.21747466C>G , CM000669.1:g.21747466C>G	GRCh37
NC_000007.12:g.21713991C>G	NCBI36
NG_012886.2:g.169634C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6683+13C>G MANE Select	ENSP00000475939.1:n.6683+13C>G
ENST00000328843.10:c.6704+13C>G	ENSP00000330671.7:n.6704+13C>G
ENST00000409508.7:c.6683+13C>G	ENSP00000475939.1:n.6683+13C>G
ENST00000620169.4:c.6704+13C>G	ENSP00000481693.1:n.6704+13C>G
NM_001277115.1:c.6683+13C>G	NP_001264044.1:n.6683+13C>G
NM_001277115.2:c.6683+13C>G MANE Select	NP_001264044.1:n.6683+13C>G