Canonical Allele Identifier: CA260569

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 36981
• ClinVar RCV Id: RCV000030676 ; RCV000230314 ; RCV002291548
• dbSNP Id: rs368260932
• ExAC: 7:21789320 C / T
• gnomAD v2: 7-21789320-C-T
• gnomAD v3: 7-21749702-C-T
• gnomAD v4: 7-21749702-C-T
• MyVariant Identifiers: chr7:g.21789320C>T (hg19) ; chr7:g.21749702C>T (hg38)
• PubMed: PMID:22102620

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21749702C>T , CM000669.2:g.21749702C>T	GRCh38
NC_000007.13:g.21789320C>T , CM000669.1:g.21789320C>T	GRCh37
NC_000007.12:g.21755845C>T	NCBI36
NG_012886.2:g.211488C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.8698C>T MANE Select	ENSP00000475939.1:p.Arg2900Ter
ENST00000328843.10:c.8719C>T	ENSP00000330671.7:p.Arg2907Ter
ENST00000409508.7:c.8698C>T	ENSP00000475939.1:p.Arg2900Ter
ENST00000620169.4:c.8719C>T	ENSP00000481693.1:p.Arg2907Ter
NM_001277115.1:c.8698C>T	NP_001264044.1:p.Arg2900Ter
NM_001277115.2:c.8698C>T MANE Select	NP_001264044.1:p.Arg2900Ter