Canonical Allele Identifier: CA246938
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 198347
ClinVar RCV Id: RCV000218296 RCV000226017 RCV000723974 RCV000735289 RCV001160743 RCV003917675
dbSNP Id: rs370932895
ExAC: 7:21856224 G / A
gnomAD v2: 7-21856224-G-A
gnomAD v3: 7-21816606-G-A
gnomAD v4: 7-21816606-G-A
MyVariant Identifiers: chr7:g.21856224G>A (hg19) chr7:g.21816606G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816606G>A , CM000669.2:g.21816606G>A GRCh38
NC_000007.13:g.21856224G>A , CM000669.1:g.21856224G>A GRCh37
NC_000007.12:g.21822749G>A NCBI36
NG_012886.2:g.278392G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.10472G>A MANE Select ENSP00000475939.1:p.Arg3491His
ENST00000328843.10:c.10493G>A ENSP00000330671.7:p.Arg3498His
ENST00000409508.7:c.10472G>A ENSP00000475939.1:p.Arg3491His
ENST00000620169.4:c.10493G>A ENSP00000481693.1:p.Arg3498His
NM_001277115.1:c.10472G>A NP_001264044.1:p.Arg3491His
NM_001277115.2:c.10472G>A MANE Select NP_001264044.1:p.Arg3491His
Search 100 bp 5'
Search 100 bp 3'