Canonical Allele Identifier: CA2681991198
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21864469-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21864469A>G , CM000669.2:g.21864469A>G GRCh38
NC_000007.13:g.21904087A>G , CM000669.1:g.21904087A>G GRCh37
NC_000007.12:g.21870612A>G NCBI36
NG_012886.2:g.326255A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.11374-66A>G MANE Select ENSP00000475939.1:n.11374-66A>G
ENST00000328843.10:c.11395-66A>G ENSP00000330671.7:n.11395-66A>G
ENST00000409508.7:c.11374-66A>G ENSP00000475939.1:n.11374-66A>G
ENST00000620169.4:c.11395-66A>G ENSP00000481693.1:n.11395-66A>G
NM_001277115.1:c.11374-66A>G NP_001264044.1:n.11374-66A>G
NM_001277115.2:c.11374-66A>G MANE Select NP_001264044.1:n.11374-66A>G