Canonical Allele Identifier: CA2681992376
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21881017-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21881017T>G , CM000669.2:g.21881017T>G GRCh38
NC_000007.13:g.21920635T>G , CM000669.1:g.21920635T>G GRCh37
NC_000007.12:g.21887160T>G NCBI36
NG_012886.2:g.342803T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12387+124T>G MANE Select ENSP00000475939.1:n.12387+124T>G
ENST00000328843.10:c.12408+124T>G ENSP00000330671.7:n.12408+124T>G
ENST00000409508.7:c.12387+124T>G ENSP00000475939.1:n.12387+124T>G
ENST00000620169.4:c.12408+124T>G ENSP00000481693.1:n.12408+124T>G
NM_001277115.1:c.12387+124T>G NP_001264044.1:n.12387+124T>G
NM_001277115.2:c.12387+124T>G MANE Select NP_001264044.1:n.12387+124T>G