Canonical Allele Identifier: CA4182733

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359678
• ClinVar RCV Id: RCV000289431 ; RCV004530453
• dbSNP Id: rs201700629
• ExAC: 7:21904153 A / G
• gnomAD v2: 7-21904153-A-G
• gnomAD v3: 7-21864535-A-G
• gnomAD v4: 7-21864535-A-G
• MyVariant Identifiers: chr7:g.21904153A>G (hg19) ; chr7:g.21864535A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21864535A>G , CM000669.2:g.21864535A>G	GRCh38
NC_000007.13:g.21904153A>G , CM000669.1:g.21904153A>G	GRCh37
NC_000007.12:g.21870678A>G	NCBI36
NG_012886.2:g.326321A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.11374A>G MANE Select	ENSP00000475939.1:p.Ile3792Val
ENST00000328843.10:c.11395A>G	ENSP00000330671.7:p.Ile3799Val
ENST00000409508.7:c.11374A>G	ENSP00000475939.1:p.Ile3792Val
ENST00000620169.4:c.11395A>G	ENSP00000481693.1:p.Ile3799Val
NM_001277115.1:c.11374A>G	NP_001264044.1:p.Ile3792Val
NM_001277115.2:c.11374A>G MANE Select	NP_001264044.1:p.Ile3792Val