Canonical Allele Identifier: CA453964900
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1784227833
MyVariant Identifiers: chr7:g.21745083C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21705465C>A , CM000669.2:g.21705465C>A GRCh38
NC_000007.13:g.21745083C>A , CM000669.1:g.21745083C>A GRCh37
NC_000007.12:g.21711608C>A NCBI36
NG_012886.2:g.167251C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.6474C>A MANE Select ENSP00000475939.1:p.Val2158=
ENST00000328843.10:c.6495C>A ENSP00000330671.7:p.Val2165=
ENST00000409508.7:c.6474C>A ENSP00000475939.1:p.Val2158=
ENST00000620169.4:c.6495C>A ENSP00000481693.1:p.Val2165=
NM_001277115.1:c.6474C>A NP_001264044.1:p.Val2158=
NM_001277115.2:c.6474C>A MANE Select NP_001264044.1:p.Val2158=