Canonical Allele Identifier: CA175717

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 163103
• ClinVar RCV Id: RCV000150434 ; RCV002055961
• dbSNP Id: rs727502966
• gnomAD v2: 7-21654720-T-A
• gnomAD v3: 7-21615102-T-A
• gnomAD v4: 7-21615102-T-A
• MyVariant Identifiers: chr7:g.21654720T>A (hg19) ; chr7:g.21615102T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21615102T>A , CM000669.2:g.21615102T>A	GRCh38
NC_000007.13:g.21654720T>A , CM000669.1:g.21654720T>A	GRCh37
NC_000007.12:g.21621245T>A	NCBI36
NG_012886.2:g.76888T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.3853-12T>A MANE Select	ENSP00000475939.1:n.3853-12T>A
ENST00000328843.10:c.3853-12T>A	ENSP00000330671.7:n.3853-12T>A
ENST00000409508.7:c.3853-12T>A	ENSP00000475939.1:n.3853-12T>A
ENST00000620169.4:c.3853-12T>A	ENSP00000481693.1:n.3853-12T>A
NM_001277115.1:c.3853-12T>A	NP_001264044.1:n.3853-12T>A
NM_001277115.2:c.3853-12T>A MANE Select	NP_001264044.1:n.3853-12T>A