Canonical Allele Identifier: CA10623643
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 359686
ClinVar RCV Id: RCV000262624
dbSNP Id: rs886062187
MyVariant Identifiers: chr7:g.21920499G>C (hg19) chr7:g.21880881G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880881G>C , CM000669.2:g.21880881G>C GRCh38
NC_000007.13:g.21920499G>C , CM000669.1:g.21920499G>C GRCh37
NC_000007.12:g.21887024G>C NCBI36
NG_012886.2:g.342667G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.12375G>C MANE Select ENSP00000475939.1:p.Glu4125Asp
ENST00000328843.10:c.12396G>C ENSP00000330671.7:p.Glu4132Asp
ENST00000409508.7:c.12375G>C ENSP00000475939.1:p.Glu4125Asp
ENST00000620169.4:c.12396G>C ENSP00000481693.1:p.Glu4132Asp
NM_001277115.1:c.12375G>C NP_001264044.1:p.Glu4125Asp
NM_001277115.2:c.12375G>C MANE Select NP_001264044.1:p.Glu4125Asp
Search 100 bp 5'
Search 100 bp 3'