Canonical Allele Identifier: CA4182225
Gene: DNAH11 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.21801195A>C
GRCh37 chr7:g.21840813A>C
Revel Score:
ENST00000328843 0.636
gnomAD v2:
7:21840813 A / C
gnomAD v3:
7:21801195 A / C
gnomAD v4:
chr7-21801195-A-C
Joint Max Group AF 0.00007739 (AMR)
Exomes Max Group AF 0.00008873 (AMR)
ClinVar RCV:
RCV000234358
ClinVar Variation:
238886
dbSNP:
756499246
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21801195A>C , CM000669.2:g.21801195A>C GRCh38
NC_000007.13:g.21840813A>C , CM000669.1:g.21840813A>C GRCh37
NC_000007.12:g.21807338A>C NCBI36
NG_012886.2:g.262981A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10085A>C MANE Select ENSP00000475939.1:p.Lys3362Thr
ENST00000328843.10:c.10106A>C ENSP00000330671.7:p.Lys3369Thr
ENST00000409508.7:c.10085A>C ENSP00000475939.1:p.Lys3362Thr
ENST00000620169.4:c.10106A>C ENSP00000481693.1:p.Lys3369Thr
NM_001277115.1:c.10085A>C NP_001264044.1:p.Lys3362Thr
NM_001277115.2:c.10085A>C MANE Select NP_001264044.1:p.Lys3362Thr
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