Canonical Allele Identifier: CA572917796
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1209518648
gnomAD v2: 7-21658714-T-G
gnomAD v4: 7-21619096-T-G
MyVariant Identifiers: chr7:g.21658714T>G (hg19) chr7:g.21619096T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619096T>G , CM000669.2:g.21619096T>G GRCh38
NC_000007.13:g.21658714T>G , CM000669.1:g.21658714T>G GRCh37
NC_000007.12:g.21625239T>G NCBI36
NG_012886.2:g.80882T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4255-4T>G MANE Select ENSP00000475939.1:n.4255-4T>G
ENST00000328843.10:c.4270-4T>G ENSP00000330671.7:n.4270-4T>G
ENST00000409508.7:c.4255-4T>G ENSP00000475939.1:n.4255-4T>G
ENST00000465593.1:n.281-4T>G
ENST00000620169.4:c.4270-4T>G ENSP00000481693.1:n.4270-4T>G
NM_001277115.1:c.4255-4T>G NP_001264044.1:n.4255-4T>G
NM_001277115.2:c.4255-4T>G MANE Select NP_001264044.1:n.4255-4T>G
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