Canonical Allele Identifier: CA4179519
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 238905
ClinVar RCV Id: RCV000232460 RCV000245605 RCV001658055 RCV002503902
dbSNP Id: rs72657303
ExAC: 7:21640338 G / T
gnomAD v2: 7-21640338-G-T
gnomAD v3: 7-21600720-G-T
gnomAD v4: 7-21600720-G-T
MyVariant Identifiers: chr7:g.21640338G>T (hg19) chr7:g.21600720G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21600720G>T , CM000669.2:g.21600720G>T GRCh38
NC_000007.13:g.21640338G>T , CM000669.1:g.21640338G>T GRCh37
NC_000007.12:g.21606863G>T NCBI36
NG_012886.2:g.62506G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.3045G>T MANE Select ENSP00000475939.1:p.Glu1015Asp
ENST00000328843.10:c.3045G>T ENSP00000330671.7:p.Glu1015Asp
ENST00000409508.7:c.3045G>T ENSP00000475939.1:p.Glu1015Asp
ENST00000620169.4:c.3045G>T ENSP00000481693.1:p.Glu1015Asp
NM_001277115.1:c.3045G>T NP_001264044.1:p.Glu1015Asp
NM_001277115.2:c.3045G>T MANE Select NP_001264044.1:p.Glu1015Asp
Search 100 bp 5'
Search 100 bp 3'