Canonical Allele Identifier: CA4179997

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 228332
• ClinVar RCV Id: RCV000218593 ; RCV003147415 ; RCV003325469
• dbSNP Id: rs72657316
• ExAC: 7:21658796 C / T
• gnomAD v2: 7-21658796-C-T
• gnomAD v3: 7-21619178-C-T
• gnomAD v4: 7-21619178-C-T
• COSMIC: COSM6222946 ; COSM6222947
• MyVariant Identifiers: chr7:g.21658796C>T (hg19) ; chr7:g.21619178C>T (hg38)
• PubMed: PMID:22184204

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21619178C>T , CM000669.2:g.21619178C>T	GRCh38
NC_000007.13:g.21658796C>T , CM000669.1:g.21658796C>T	GRCh37
NC_000007.12:g.21625321C>T	NCBI36
NG_012886.2:g.80964C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4333C>T MANE Select	ENSP00000475939.1:p.Arg1445Ter
ENST00000328843.10:c.4348C>T	ENSP00000330671.7:p.Arg1450Ter
ENST00000409508.7:c.4333C>T	ENSP00000475939.1:p.Arg1445Ter
ENST00000465593.1:n.359C>T
ENST00000620169.4:c.4348C>T	ENSP00000481693.1:p.Arg1450Ter
NM_001277115.1:c.4333C>T	NP_001264044.1:p.Arg1445Ter
NM_001277115.2:c.4333C>T MANE Select	NP_001264044.1:p.Arg1445Ter