Canonical Allele Identifier: CA366930940

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 454666
• ClinVar RCV Id: RCV000537312 ; RCV001783025
• dbSNP Id: rs1162526607
• gnomAD v2: 7-21582864-A-G
• gnomAD v3: 7-21543246-A-G
• gnomAD v4: 7-21543246-A-G
• MyVariant Identifiers: chr7:g.21582864A>G (hg19) ; chr7:g.21582864_21582876delinsGTGGCAGCCCAGG (hg19) ; chr7:g.21543246A>G (hg38) ; chr7:g.21543246_21543258delinsGTGGCAGCCCAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21543246A>G , CM000669.2:g.21543246A>G	GRCh38
NC_000007.13:g.21582864A>G , CM000669.1:g.21582864A>G	GRCh37
NC_000007.12:g.21549389A>G	NCBI36
NG_012886.2:g.5032A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.1A>G MANE Select	ENSP00000475939.1:p.Met1Val
ENST00000328843.10:c.1A>G	ENSP00000330671.7:p.Met1Val
ENST00000409508.7:c.1A>G	ENSP00000475939.1:p.Met1Val
ENST00000620169.4:c.1A>G	ENSP00000481693.1:p.Met1Val
NM_001277115.1:c.1A>G	NP_001264044.1:p.Met1Val
NM_001277115.2:c.1A>G MANE Select	NP_001264044.1:p.Met1Val