Canonical Allele Identifier: CA340592

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 6474
• ClinVar RCV Id: RCV000006847 ; RCV000590992
• dbSNP Id: rs121908854
• gnomAD v2: 7-21788220-C-T
• gnomAD v4: 7-21748602-C-T
• MyVariant Identifiers: chr7:g.21788220C>T (hg19) ; chr7:g.21748602C>T (hg38)
• PubMed: PMID:9585585 ; PMID:12142464 ; PMID:20301301

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21748602C>T , CM000669.2:g.21748602C>T	GRCh38
NC_000007.13:g.21788220C>T , CM000669.1:g.21788220C>T	GRCh37
NC_000007.12:g.21754745C>T	NCBI36
NG_012886.2:g.210388C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.8533C>T MANE Select	ENSP00000475939.1:p.Arg2845Ter
ENST00000328843.10:c.8554C>T	ENSP00000330671.7:p.Arg2852Ter
ENST00000409508.7:c.8533C>T	ENSP00000475939.1:p.Arg2845Ter
ENST00000620169.4:c.8554C>T	ENSP00000481693.1:p.Arg2852Ter
NM_001277115.1:c.8533C>T	NP_001264044.1:p.Arg2845Ter
NM_001277115.2:c.8533C>T MANE Select	NP_001264044.1:p.Arg2845Ter