Canonical Allele Identifier: CA453962335
Gene: DNAH11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.21598506C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558888C>G , CM000669.2:g.21558888C>G GRCh38
NC_000007.13:g.21598506C>G , CM000669.1:g.21598506C>G GRCh37
NC_000007.12:g.21565031C>G NCBI36
NG_012886.2:g.20674C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.582C>G MANE Select ENSP00000475939.1:p.Val194=
ENST00000328843.10:c.582C>G ENSP00000330671.7:p.Val194=
ENST00000409508.7:c.582C>G ENSP00000475939.1:p.Val194=
ENST00000620169.4:c.582C>G ENSP00000481693.1:p.Val194=
NM_001277115.1:c.582C>G NP_001264044.1:p.Val194=
NM_001277115.2:c.582C>G MANE Select NP_001264044.1:p.Val194=