Canonical Allele Identifier: CA4179417
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1795307
ClinVar RCV Id: RCV002437493
dbSNP Id: rs746755614
ExAC: 7:21639469 T / A
gnomAD v2: 7-21639469-T-A
gnomAD v3: 7-21599851-T-A
gnomAD v4: 7-21599851-T-A
MyVariant Identifiers: chr7:g.21639469T>A (hg19) chr7:g.21599851T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599851T>A , CM000669.2:g.21599851T>A GRCh38
NC_000007.13:g.21639469T>A , CM000669.1:g.21639469T>A GRCh37
NC_000007.12:g.21605994T>A NCBI36
NG_012886.2:g.61637T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2732T>A MANE Select ENSP00000475939.1:p.Ile911Asn
ENST00000328843.10:c.2732T>A ENSP00000330671.7:p.Ile911Asn
ENST00000409508.7:c.2732T>A ENSP00000475939.1:p.Ile911Asn
ENST00000620169.4:c.2732T>A ENSP00000481693.1:p.Ile911Asn
NM_001277115.1:c.2732T>A NP_001264044.1:p.Ile911Asn
NM_001277115.2:c.2732T>A MANE Select NP_001264044.1:p.Ile911Asn
Search 100 bp 5'
Search 100 bp 3'