Canonical Allele Identifier: CA366943905
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1172504449
gnomAD v2: 7-21639447-T-A
gnomAD v4: 7-21599829-T-A
MyVariant Identifiers: chr7:g.21639447T>A (hg19) chr7:g.21599829T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599829T>A , CM000669.2:g.21599829T>A GRCh38
NC_000007.13:g.21639447T>A , CM000669.1:g.21639447T>A GRCh37
NC_000007.12:g.21605972T>A NCBI36
NG_012886.2:g.61615T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2710T>A MANE Select ENSP00000475939.1:p.Trp904Arg
ENST00000328843.10:c.2710T>A ENSP00000330671.7:p.Trp904Arg
ENST00000409508.7:c.2710T>A ENSP00000475939.1:p.Trp904Arg
ENST00000620169.4:c.2710T>A ENSP00000481693.1:p.Trp904Arg
NM_001277115.1:c.2710T>A NP_001264044.1:p.Trp904Arg
NM_001277115.2:c.2710T>A MANE Select NP_001264044.1:p.Trp904Arg
Search 100 bp 5'
Search 100 bp 3'