Canonical Allele Identifier: CA2578843794
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21864477-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21864477C>G , CM000669.2:g.21864477C>G GRCh38
NC_000007.13:g.21904095C>G , CM000669.1:g.21904095C>G GRCh37
NC_000007.12:g.21870620C>G NCBI36
NG_012886.2:g.326263C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.11374-58C>G MANE Select ENSP00000475939.1:n.11374-58C>G
ENST00000328843.10:c.11395-58C>G ENSP00000330671.7:n.11395-58C>G
ENST00000409508.7:c.11374-58C>G ENSP00000475939.1:n.11374-58C>G
ENST00000620169.4:c.11395-58C>G ENSP00000481693.1:n.11395-58C>G
NM_001277115.1:c.11374-58C>G NP_001264044.1:n.11374-58C>G
NM_001277115.2:c.11374-58C>G MANE Select NP_001264044.1:n.11374-58C>G