Canonical Allele Identifier: CA453968586
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2714847
ClinVar RCV Id: RCV003537659
dbSNP Id: rs1464421155
gnomAD v2: 7-21788333-C-T
gnomAD v3: 7-21748715-C-T
gnomAD v4: 7-21748715-C-T
MyVariant Identifiers: chr7:g.21788333C>T (hg19) chr7:g.21748715C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748715C>T , CM000669.2:g.21748715C>T GRCh38
NC_000007.13:g.21788333C>T , CM000669.1:g.21788333C>T GRCh37
NC_000007.12:g.21754858C>T NCBI36
NG_012886.2:g.210501C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8646C>T MANE Select ENSP00000475939.1:p.Thr2882=
ENST00000328843.10:c.8667C>T ENSP00000330671.7:p.Thr2889=
ENST00000409508.7:c.8646C>T ENSP00000475939.1:p.Thr2882=
ENST00000620169.4:c.8667C>T ENSP00000481693.1:p.Thr2889=
NM_001277115.1:c.8646C>T NP_001264044.1:p.Thr2882=
NM_001277115.2:c.8646C>T MANE Select NP_001264044.1:p.Thr2882=
Search 100 bp 5'
Search 100 bp 3'