Canonical Allele Identifier: CA4181445

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257933
• ClinVar RCV Id: RCV000251849 ; RCV000299336 ; RCV001335807 ; RCV003437043
• dbSNP Id: rs72657364
• ExAC: 7:21781653 A / G
• gnomAD v2: 7-21781653-A-G
• gnomAD v3: 7-21742035-A-G
• gnomAD v4: 7-21742035-A-G
• MyVariant Identifiers: chr7:g.21781653A>G (hg19) ; chr7:g.21742035A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21742035A>G , CM000669.2:g.21742035A>G	GRCh38
NC_000007.13:g.21781653A>G , CM000669.1:g.21781653A>G	GRCh37
NC_000007.12:g.21748178A>G	NCBI36
NG_012886.2:g.203821A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.8023A>G MANE Select	ENSP00000475939.1:p.Ile2675Val
ENST00000328843.10:c.8044A>G	ENSP00000330671.7:p.Ile2682Val
ENST00000409508.7:c.8023A>G	ENSP00000475939.1:p.Ile2675Val
ENST00000605912.1:c.474+2362A>G	ENSP00000476068.1:n.474+2362A>G
ENST00000620169.4:c.8044A>G	ENSP00000481693.1:p.Ile2682Val
NM_001277115.1:c.8023A>G	NP_001264044.1:p.Ile2675Val
NM_001277115.2:c.8023A>G MANE Select	NP_001264044.1:p.Ile2675Val