Canonical Allele Identifier: CA366930945
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21543248-G-A
MyVariant Identifiers: chr7:g.21582866G>A (hg19) chr7:g.21543248G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21543248G>A , CM000669.2:g.21543248G>A GRCh38
NC_000007.13:g.21582866G>A , CM000669.1:g.21582866G>A GRCh37
NC_000007.12:g.21549391G>A NCBI36
NG_012886.2:g.5034G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.3G>A MANE Select ENSP00000475939.1:p.Met1Ile
ENST00000328843.10:c.3G>A ENSP00000330671.7:p.Met1Ile
ENST00000409508.7:c.3G>A ENSP00000475939.1:p.Met1Ile
ENST00000620169.4:c.3G>A ENSP00000481693.1:p.Met1Ile
NM_001277115.1:c.3G>A NP_001264044.1:p.Met1Ile
NM_001277115.2:c.3G>A MANE Select NP_001264044.1:p.Met1Ile
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