Canonical Allele Identifier: CA4183381

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257870
• ClinVar RCV Id: RCV000243241 ; RCV000360205 ; RCV002058016
• dbSNP Id: rs200445638
• ExAC: 7:21939692 A / G
• gnomAD v2: 7-21939692-A-G
• gnomAD v3: 7-21900074-A-G
• gnomAD v4: 7-21900074-A-G
• MyVariant Identifiers: chr7:g.21939692A>G (hg19) ; chr7:g.21900074A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21900074A>G , CM000669.2:g.21900074A>G	GRCh38
NC_000007.13:g.21939692A>G , CM000669.1:g.21939692A>G	GRCh37
NC_000007.12:g.21906217A>G	NCBI36
NG_012886.2:g.361860A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.13257A>G MANE Select	ENSP00000475939.1:p.Gly4419=
ENST00000328843.10:c.13278A>G	ENSP00000330671.7:p.Gly4426=
ENST00000409508.7:c.13257A>G	ENSP00000475939.1:p.Gly4419=
ENST00000479878.1:n.628A>G
ENST00000620169.4:c.13278A>G	ENSP00000481693.1:p.Gly4426=
NM_001277115.1:c.13257A>G	NP_001264044.1:p.Gly4419=
NM_001277115.2:c.13257A>G MANE Select	NP_001264044.1:p.Gly4419=