Canonical Allele Identifier: CA366955085
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21748608-C-A
MyVariant Identifiers: chr7:g.21788226C>A (hg19) chr7:g.21748608C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748608C>A , CM000669.2:g.21748608C>A GRCh38
NC_000007.13:g.21788226C>A , CM000669.1:g.21788226C>A GRCh37
NC_000007.12:g.21754751C>A NCBI36
NG_012886.2:g.210394C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8539C>A MANE Select ENSP00000475939.1:p.Pro2847Thr
ENST00000328843.10:c.8560C>A ENSP00000330671.7:p.Pro2854Thr
ENST00000409508.7:c.8539C>A ENSP00000475939.1:p.Pro2847Thr
ENST00000620169.4:c.8560C>A ENSP00000481693.1:p.Pro2854Thr
NM_001277115.1:c.8539C>A NP_001264044.1:p.Pro2847Thr
NM_001277115.2:c.8539C>A MANE Select NP_001264044.1:p.Pro2847Thr
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