Canonical Allele Identifier: CA4183359

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359695
• ClinVar RCV Id: RCV000302293
• dbSNP Id: rs79449551
• ExAC: 7:21939611 G / A
• gnomAD v2: 7-21939611-G-A
• gnomAD v3: 7-21899993-G-A
• gnomAD v4: 7-21899993-G-A
• MyVariant Identifiers: chr7:g.21939611G>A (hg19) ; chr7:g.21899993G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21899993G>A , CM000669.2:g.21899993G>A	GRCh38
NC_000007.13:g.21939611G>A , CM000669.1:g.21939611G>A	GRCh37
NC_000007.12:g.21906136G>A	NCBI36
NG_012886.2:g.361779G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.13176G>A MANE Select	ENSP00000475939.1:p.Thr4392=
ENST00000328843.10:c.13197G>A	ENSP00000330671.7:p.Thr4399=
ENST00000409508.7:c.13176G>A	ENSP00000475939.1:p.Thr4392=
ENST00000479878.1:n.547G>A
ENST00000620169.4:c.13197G>A	ENSP00000481693.1:p.Thr4399=
NM_001277115.1:c.13176G>A	NP_001264044.1:p.Thr4392=
NM_001277115.2:c.13176G>A MANE Select	NP_001264044.1:p.Thr4392=