Canonical Allele Identifier: CA366948531
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21816573-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816573C>T , CM000669.2:g.21816573C>T GRCh38
NC_000007.13:g.21856191C>T , CM000669.1:g.21856191C>T GRCh37
NC_000007.12:g.21822716C>T NCBI36
NG_012886.2:g.278359C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10439C>T MANE Select ENSP00000475939.1:p.Thr3480Ile
ENST00000328843.10:c.10460C>T ENSP00000330671.7:p.Thr3487Ile
ENST00000409508.7:c.10439C>T ENSP00000475939.1:p.Thr3480Ile
ENST00000620169.4:c.10460C>T ENSP00000481693.1:p.Thr3487Ile
NM_001277115.1:c.10439C>T NP_001264044.1:p.Thr3480Ile
NM_001277115.2:c.10439C>T MANE Select NP_001264044.1:p.Thr3480Ile