Canonical Allele Identifier: CA4182740
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2985380
ClinVar RCV Id: RCV003848507
dbSNP Id: rs773471429
ExAC: 7:21904183 C / G
gnomAD v2: 7-21904183-C-G
gnomAD v3: 7-21864565-C-G
gnomAD v4: 7-21864565-C-G
MyVariant Identifiers: chr7:g.21904183C>G (hg19) chr7:g.21864565C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21864565C>G , CM000669.2:g.21864565C>G GRCh38
NC_000007.13:g.21904183C>G , CM000669.1:g.21904183C>G GRCh37
NC_000007.12:g.21870708C>G NCBI36
NG_012886.2:g.326351C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.11404C>G MANE Select ENSP00000475939.1:p.Leu3802Val
ENST00000328843.10:c.11425C>G ENSP00000330671.7:p.Leu3809Val
ENST00000409508.7:c.11404C>G ENSP00000475939.1:p.Leu3802Val
ENST00000620169.4:c.11425C>G ENSP00000481693.1:p.Leu3809Val
NM_001277115.1:c.11404C>G NP_001264044.1:p.Leu3802Val
NM_001277115.2:c.11404C>G MANE Select NP_001264044.1:p.Leu3802Val
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