Canonical Allele Identifier: CA155123172

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 525273
• ClinVar RCV Id: RCV000629324 ; RCV000734391 ; RCV001542426
• dbSNP Id: rs928335497
• gnomAD v2: 7-21857897-A-G
• gnomAD v3: 7-21818279-A-G
• gnomAD v4: 7-21818279-A-G
• MyVariant Identifiers: chr7:g.21857897A>G (hg19) ; chr7:g.21818279A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21818279A>G , CM000669.2:g.21818279A>G	GRCh38
NC_000007.13:g.21857897A>G , CM000669.1:g.21857897A>G	GRCh37
NC_000007.12:g.21824422A>G	NCBI36
NG_012886.2:g.280065A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.10631A>G MANE Select	ENSP00000475939.1:p.Glu3544Gly
ENST00000328843.10:c.10652A>G	ENSP00000330671.7:p.Glu3551Gly
ENST00000409508.7:c.10631A>G	ENSP00000475939.1:p.Glu3544Gly
ENST00000620169.4:c.10652A>G	ENSP00000481693.1:p.Glu3551Gly
NM_001277115.1:c.10631A>G	NP_001264044.1:p.Glu3544Gly
NM_001277115.2:c.10631A>G MANE Select	NP_001264044.1:p.Glu3544Gly