Canonical Allele Identifier: CA349577

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 219477
• ClinVar RCV Id: RCV000205408 ; RCV000600436 ; RCV004541286 ; RCV000998771
• dbSNP Id: rs189432084
• ExAC: 7:21698453 A / G
• gnomAD v2: 7-21698453-A-G
• gnomAD v3: 7-21658835-A-G
• gnomAD v4: 7-21658835-A-G
• MyVariant Identifiers: chr7:g.21698453A>G (hg19) ; chr7:g.21658835A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21658835A>G , CM000669.2:g.21658835A>G	GRCh38
NC_000007.13:g.21698453A>G , CM000669.1:g.21698453A>G	GRCh37
NC_000007.12:g.21664978A>G	NCBI36
NG_012886.2:g.120621A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.5132A>G MANE Select	ENSP00000475939.1:p.Gln1711Arg
ENST00000328843.10:c.5147A>G	ENSP00000330671.7:p.Gln1716Arg
ENST00000409508.7:c.5132A>G	ENSP00000475939.1:p.Gln1711Arg
ENST00000620169.4:c.5147A>G	ENSP00000481693.1:p.Gln1716Arg
NM_001277115.1:c.5132A>G	NP_001264044.1:p.Gln1711Arg
NM_001277115.2:c.5132A>G MANE Select	NP_001264044.1:p.Gln1711Arg