Canonical Allele Identifier: CA4182350
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 908740
ClinVar RCV Id: RCV001159376 RCV002393373
dbSNP Id: rs535847014
ExAC: 7:21856132 G / A
gnomAD v2: 7-21856132-G-A
gnomAD v3: 7-21816514-G-A
gnomAD v4: 7-21816514-G-A
COSMIC: COSM3637391 COSM3637392
MyVariant Identifiers: chr7:g.21856132G>A (hg19) chr7:g.21816514G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816514G>A , CM000669.2:g.21816514G>A GRCh38
NC_000007.13:g.21856132G>A , CM000669.1:g.21856132G>A GRCh37
NC_000007.12:g.21822657G>A NCBI36
NG_012886.2:g.278300G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10380G>A MANE Select ENSP00000475939.1:p.Thr3460=
ENST00000328843.10:c.10401G>A ENSP00000330671.7:p.Thr3467=
ENST00000409508.7:c.10380G>A ENSP00000475939.1:p.Thr3460=
ENST00000620169.4:c.10401G>A ENSP00000481693.1:p.Thr3467=
NM_001277115.1:c.10380G>A NP_001264044.1:p.Thr3460=
NM_001277115.2:c.10380G>A MANE Select NP_001264044.1:p.Thr3460=
Search 100 bp 5'
Search 100 bp 3'