Canonical Allele Identifier: CA4181689
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2892382
ClinVar RCV Id: RCV003650193
dbSNP Id: rs753994285
ExAC: 7:21789276 G / C
gnomAD v2: 7-21789276-G-C
gnomAD v3: 7-21749658-G-C
gnomAD v4: 7-21749658-G-C
MyVariant Identifiers: chr7:g.21789276G>C (hg19) chr7:g.21749658G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21749658G>C , CM000669.2:g.21749658G>C GRCh38
NC_000007.13:g.21789276G>C , CM000669.1:g.21789276G>C GRCh37
NC_000007.12:g.21755801G>C NCBI36
NG_012886.2:g.211444G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8674-20G>C MANE Select ENSP00000475939.1:n.8674-20G>C
ENST00000328843.10:c.8695-20G>C ENSP00000330671.7:n.8695-20G>C
ENST00000409508.7:c.8674-20G>C ENSP00000475939.1:n.8674-20G>C
ENST00000620169.4:c.8695-20G>C ENSP00000481693.1:n.8695-20G>C
NM_001277115.1:c.8674-20G>C NP_001264044.1:n.8674-20G>C
NM_001277115.2:c.8674-20G>C MANE Select NP_001264044.1:n.8674-20G>C
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