Canonical Allele Identifier: CA836643678
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1200720836
gnomAD v4: 7-21600226-G-A
MyVariant Identifiers: chr7:g.21639844G>A (hg19) chr7:g.21600226G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21600226G>A , CM000669.2:g.21600226G>A GRCh38
NC_000007.13:g.21639844G>A , CM000669.1:g.21639844G>A GRCh37
NC_000007.12:g.21606369G>A NCBI36
NG_012886.2:g.62012G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.3000+107G>A MANE Select ENSP00000475939.1:n.3000+107G>A
ENST00000328843.10:c.3000+107G>A ENSP00000330671.7:n.3000+107G>A
ENST00000409508.7:c.3000+107G>A ENSP00000475939.1:n.3000+107G>A
ENST00000620169.4:c.3000+107G>A ENSP00000481693.1:n.3000+107G>A
NM_001277115.1:c.3000+107G>A NP_001264044.1:n.3000+107G>A
NM_001277115.2:c.3000+107G>A MANE Select NP_001264044.1:n.3000+107G>A
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