Canonical Allele Identifier: CA4181667
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 639431
ClinVar RCV Id: RCV000792218
dbSNP Id: rs199574130
ExAC: 7:21788358 C / T
gnomAD v2: 7-21788358-C-T
gnomAD v3: 7-21748740-C-T
gnomAD v4: 7-21748740-C-T
MyVariant Identifiers: chr7:g.21788358C>T (hg19) chr7:g.21748740C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748740C>T , CM000669.2:g.21748740C>T GRCh38
NC_000007.13:g.21788358C>T , CM000669.1:g.21788358C>T GRCh37
NC_000007.12:g.21754883C>T NCBI36
NG_012886.2:g.210526C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8671C>T MANE Select ENSP00000475939.1:p.Arg2891Trp
ENST00000328843.10:c.8692C>T ENSP00000330671.7:p.Arg2898Trp
ENST00000409508.7:c.8671C>T ENSP00000475939.1:p.Arg2891Trp
ENST00000620169.4:c.8692C>T ENSP00000481693.1:p.Arg2898Trp
NM_001277115.1:c.8671C>T NP_001264044.1:p.Arg2891Trp
NM_001277115.2:c.8671C>T MANE Select NP_001264044.1:p.Arg2891Trp
Search 100 bp 5'
Search 100 bp 3'