Canonical Allele Identifier: CA572917778
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1235326774
gnomAD v2: 7-21658607-C-T
gnomAD v3: 7-21618989-C-T
gnomAD v4: 7-21618989-C-T
MyVariant Identifiers: chr7:g.21658607C>T (hg19) chr7:g.21618989C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21618989C>T , CM000669.2:g.21618989C>T GRCh38
NC_000007.13:g.21658607C>T , CM000669.1:g.21658607C>T GRCh37
NC_000007.12:g.21625132C>T NCBI36
NG_012886.2:g.80775C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4255-111C>T MANE Select ENSP00000475939.1:n.4255-111C>T
ENST00000328843.10:c.4270-111C>T ENSP00000330671.7:n.4270-111C>T
ENST00000409508.7:c.4255-111C>T ENSP00000475939.1:n.4255-111C>T
ENST00000465593.1:n.281-111C>T
ENST00000620169.4:c.4270-111C>T ENSP00000481693.1:n.4270-111C>T
NM_001277115.1:c.4255-111C>T NP_001264044.1:n.4255-111C>T
NM_001277115.2:c.4255-111C>T MANE Select NP_001264044.1:n.4255-111C>T
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