Canonical Allele Identifier: CA4182214

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 501278
• ClinVar RCV Id: RCV000596799 ; RCV002532576
• dbSNP Id: rs772016314
• ExAC: 7:21840769 T / A
• gnomAD v2: 7-21840769-T-A
• gnomAD v3: 7-21801151-T-A
• gnomAD v4: 7-21801151-T-A
• MyVariant Identifiers: chr7:g.21840769T>A (hg19) ; chr7:g.21801151T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21801151T>A , CM000669.2:g.21801151T>A	GRCh38
NC_000007.13:g.21840769T>A , CM000669.1:g.21840769T>A	GRCh37
NC_000007.12:g.21807294T>A	NCBI36
NG_012886.2:g.262937T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.10041T>A MANE Select	ENSP00000475939.1:p.Asn3347Lys
ENST00000328843.10:c.10062T>A	ENSP00000330671.7:p.Asn3354Lys
ENST00000409508.7:c.10041T>A	ENSP00000475939.1:p.Asn3347Lys
ENST00000620169.4:c.10062T>A	ENSP00000481693.1:p.Asn3354Lys
NM_001277115.1:c.10041T>A	NP_001264044.1:p.Asn3347Lys
NM_001277115.2:c.10041T>A MANE Select	NP_001264044.1:p.Asn3347Lys