Canonical Allele Identifier: CA4182320
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1477852
ClinVar RCV Id: RCV001971800
dbSNP Id: rs774841011
ExAC: 7:21847670 A / G
gnomAD v2: 7-21847670-A-G
gnomAD v3: 7-21808052-A-G
gnomAD v4: 7-21808052-A-G
MyVariant Identifiers: chr7:g.21847670A>G (hg19) chr7:g.21808052A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21808052A>G , CM000669.2:g.21808052A>G GRCh38
NC_000007.13:g.21847670A>G , CM000669.1:g.21847670A>G GRCh37
NC_000007.12:g.21814195A>G NCBI36
NG_012886.2:g.269838A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10332+3A>G MANE Select ENSP00000475939.1:n.10332+3A>G
ENST00000328843.10:c.10353+3A>G ENSP00000330671.7:n.10353+3A>G
ENST00000409508.7:c.10332+3A>G ENSP00000475939.1:n.10332+3A>G
ENST00000620169.4:c.10353+3A>G ENSP00000481693.1:n.10353+3A>G
NM_001277115.1:c.10332+3A>G NP_001264044.1:n.10332+3A>G
NM_001277115.2:c.10332+3A>G MANE Select NP_001264044.1:n.10332+3A>G
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