Canonical Allele Identifier: CA10582482

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 238923
• ClinVar RCV Id: RCV000228105 ; RCV004529391
• dbSNP Id: rs878854444
• gnomAD v2: 7-21678684-G-A
• gnomAD v3: 7-21639066-G-A
• gnomAD v4: 7-21639066-G-A
• COSMIC: COSM1088406
• MyVariant Identifiers: chr7:g.21678684G>A (hg19) ; chr7:g.21639066G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21639066G>A , CM000669.2:g.21639066G>A	GRCh38
NC_000007.13:g.21678684G>A , CM000669.1:g.21678684G>A	GRCh37
NC_000007.12:g.21645209G>A	NCBI36
NG_012886.2:g.100852G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4944+1G>A MANE Select	ENSP00000475939.1:n.4944+1G>A
ENST00000328843.10:c.4959+1G>A	ENSP00000330671.7:n.4959+1G>A
ENST00000409508.7:c.4944+1G>A	ENSP00000475939.1:n.4944+1G>A
ENST00000620169.4:c.4959+1G>A	ENSP00000481693.1:n.4959+1G>A
NM_001277115.1:c.4944+1G>A	NP_001264044.1:n.4944+1G>A
NM_001277115.2:c.4944+1G>A MANE Select	NP_001264044.1:n.4944+1G>A