Canonical Allele Identifier: CA349446
Gene: DNAH11 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.21787566A>G
GRCh37 chr7:g.21827184A>G
Revel Score:
ENST00000328843 0.397
gnomAD v2:
7:21827184 A / G
gnomAD v3:
7:21787566 A / G
gnomAD v4:
chr7-21787566-A-G
Joint Max Group AF 0.00050701 (AFR)
Genomes Max Group AF 0.00041765 (AFR)
Exomes Max Group AF 0.00049477 (AFR)
ClinVar RCV:
RCV000205270
ClinVar Variation:
219980
dbSNP:
376875223
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21787566A>G , CM000669.2:g.21787566A>G GRCh38
NC_000007.13:g.21827184A>G , CM000669.1:g.21827184A>G GRCh37
NC_000007.12:g.21793709A>G NCBI36
NG_012886.2:g.249352A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.9907A>G MANE Select ENSP00000475939.1:p.Ile3303Val
ENST00000328843.10:c.9928A>G ENSP00000330671.7:p.Ile3310Val
ENST00000409508.7:c.9907A>G ENSP00000475939.1:p.Ile3303Val
ENST00000620169.4:c.9928A>G ENSP00000481693.1:p.Ile3310Val
NM_001277115.1:c.9907A>G NP_001264044.1:p.Ile3303Val
NM_001277115.2:c.9907A>G MANE Select NP_001264044.1:p.Ile3303Val
Search 100 bp 5'
Search 100 bp 3'