Canonical Allele Identifier: CA155121928
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1199640
ClinVar RCV Id: RCV001564371
dbSNP Id: rs17150381
gnomAD v2: 7-21855882-C-G
gnomAD v3: 7-21816264-C-G
gnomAD v4: 7-21816264-C-G
MyVariant Identifiers: chr7:g.21855882C>G (hg19) chr7:g.21816264C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816264C>G , CM000669.2:g.21816264C>G GRCh38
NC_000007.13:g.21855882C>G , CM000669.1:g.21855882C>G GRCh37
NC_000007.12:g.21822407C>G NCBI36
NG_012886.2:g.278050C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10333-203C>G MANE Select ENSP00000475939.1:n.10333-203C>G
ENST00000328843.10:c.10354-203C>G ENSP00000330671.7:n.10354-203C>G
ENST00000409508.7:c.10333-203C>G ENSP00000475939.1:n.10333-203C>G
ENST00000620169.4:c.10354-203C>G ENSP00000481693.1:n.10354-203C>G
NM_001277115.1:c.10333-203C>G NP_001264044.1:n.10333-203C>G
NM_001277115.2:c.10333-203C>G MANE Select NP_001264044.1:n.10333-203C>G
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