Canonical Allele Identifier: CA4178710
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 257910
ClinVar RCV Id: RCV000246577 RCV000527200
dbSNP Id: rs143304361
ExAC: 7:21598479 A / G
gnomAD v2: 7-21598479-A-G
gnomAD v3: 7-21558861-A-G
gnomAD v4: 7-21558861-A-G
MyVariant Identifiers: chr7:g.21598479A>G (hg19) chr7:g.21558861A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558861A>G , CM000669.2:g.21558861A>G GRCh38
NC_000007.13:g.21598479A>G , CM000669.1:g.21598479A>G GRCh37
NC_000007.12:g.21565004A>G NCBI36
NG_012886.2:g.20647A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.555A>G MANE Select ENSP00000475939.1:p.Ser185=
ENST00000328843.10:c.555A>G ENSP00000330671.7:p.Ser185=
ENST00000409508.7:c.555A>G ENSP00000475939.1:p.Ser185=
ENST00000620169.4:c.555A>G ENSP00000481693.1:p.Ser185=
NM_001277115.1:c.555A>G NP_001264044.1:p.Ser185=
NM_001277115.2:c.555A>G MANE Select NP_001264044.1:p.Ser185=
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