Canonical Allele Identifier: CA4180322

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 226586
• ClinVar RCV Id: RCV004541307 ; RCV000215305 ; RCV000299427
• dbSNP Id: rs137855415
• ExAC: 7:21698473 A / G
• gnomAD v2: 7-21698473-A-G
• gnomAD v3: 7-21658855-A-G
• gnomAD v4: 7-21658855-A-G
• MyVariant Identifiers: chr7:g.21698473A>G (hg19) ; chr7:g.21658855A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21658855A>G , CM000669.2:g.21658855A>G	GRCh38
NC_000007.13:g.21698473A>G , CM000669.1:g.21698473A>G	GRCh37
NC_000007.12:g.21664998A>G	NCBI36
NG_012886.2:g.120641A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.5152A>G MANE Select	ENSP00000475939.1:p.Ile1718Val
ENST00000328843.10:c.5167A>G	ENSP00000330671.7:p.Ile1723Val
ENST00000409508.7:c.5152A>G	ENSP00000475939.1:p.Ile1718Val
ENST00000620169.4:c.5167A>G	ENSP00000481693.1:p.Ile1723Val
NM_001277115.1:c.5152A>G	NP_001264044.1:p.Ile1718Val
NM_001277115.2:c.5152A>G MANE Select	NP_001264044.1:p.Ile1718Val