Canonical Allele Identifier: CA4181029

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359649
• ClinVar RCV Id: RCV000387114
• dbSNP Id: rs745494770
• ExAC: 7:21751362 A / G
• gnomAD v2: 7-21751362-A-G
• gnomAD v3: 7-21711744-A-G
• gnomAD v4: 7-21711744-A-G
• MyVariant Identifiers: chr7:g.21751362A>G (hg19) ; chr7:g.21711744A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21711744A>G , CM000669.2:g.21711744A>G	GRCh38
NC_000007.13:g.21751362A>G , CM000669.1:g.21751362A>G	GRCh37
NC_000007.12:g.21717887A>G	NCBI36
NG_012886.2:g.173530A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6867A>G MANE Select	ENSP00000475939.1:p.Ala2289=
ENST00000328843.10:c.6888A>G	ENSP00000330671.7:p.Ala2296=
ENST00000409508.7:c.6867A>G	ENSP00000475939.1:p.Ala2289=
ENST00000620169.4:c.6888A>G	ENSP00000481693.1:p.Ala2296=
NM_001277115.1:c.6867A>G	NP_001264044.1:p.Ala2289=
NM_001277115.2:c.6867A>G MANE Select	NP_001264044.1:p.Ala2289=