Canonical Allele Identifier: CA10582477
Gene: DNAH11 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.21564201A>G
GRCh37 chr7:g.21603819A>G
Revel Score:
ENST00000328843 0.164
gnomAD v2:
7:21603819 A / G
gnomAD v3:
7:21564201 A / G
gnomAD v4:
chr7-21564201-A-G
Joint Max Group AF 0.00003516 (AFR)
Genomes Max Group AF 0.00006295 (AFR)
Exomes Max Group AF 0.00000809 (AMR)
ClinVar RCV:
RCV000227399
ClinVar Variation:
238947
dbSNP:
878854450
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21564201A>G , CM000669.2:g.21564201A>G GRCh38
NC_000007.13:g.21603819A>G , CM000669.1:g.21603819A>G GRCh37
NC_000007.12:g.21570344A>G NCBI36
NG_012886.2:g.25987A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.998A>G MANE Select ENSP00000475939.1:p.Gln333Arg
ENST00000328843.10:c.998A>G ENSP00000330671.7:p.Gln333Arg
ENST00000409508.7:c.998A>G ENSP00000475939.1:p.Gln333Arg
ENST00000496218.1:n.80+3031A>G
ENST00000620169.4:c.998A>G ENSP00000481693.1:p.Gln333Arg
NM_001277115.1:c.998A>G NP_001264044.1:p.Gln333Arg
XR_927090.1:n.564-3961T>C
XR_001745114.1:n.2794-3961T>C
NM_001277115.2:c.998A>G MANE Select NP_001264044.1:p.Gln333Arg
Search 100 bp 5'
Search 100 bp 3'