Canonical Allele Identifier: CA4183390

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257871
• ClinVar RCV Id: RCV000253177 ; RCV000685303
• dbSNP Id: rs773266815
• ExAC: 7:21939713 A / G
• gnomAD v2: 7-21939713-A-G
• gnomAD v4: 7-21900095-A-G
• MyVariant Identifiers: chr7:g.21939713A>G (hg19) ; chr7:g.21900095A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21900095A>G , CM000669.2:g.21900095A>G	GRCh38
NC_000007.13:g.21939713A>G , CM000669.1:g.21939713A>G	GRCh37
NC_000007.12:g.21906238A>G	NCBI36
NG_012886.2:g.361881A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.13278A>G MANE Select	ENSP00000475939.1:p.Ala4426=
ENST00000328843.10:c.13299A>G	ENSP00000330671.7:p.Ala4433=
ENST00000409508.7:c.13278A>G	ENSP00000475939.1:p.Ala4426=
ENST00000479878.1:n.649A>G
ENST00000620169.4:c.13299A>G	ENSP00000481693.1:p.Ala4433=
NM_001277115.1:c.13278A>G	NP_001264044.1:p.Ala4426=
NM_001277115.2:c.13278A>G MANE Select	NP_001264044.1:p.Ala4426=