Canonical Allele Identifier: CA366952492
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21619104-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619104A>G , CM000669.2:g.21619104A>G GRCh38
NC_000007.13:g.21658722A>G , CM000669.1:g.21658722A>G GRCh37
NC_000007.12:g.21625247A>G NCBI36
NG_012886.2:g.80890A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4259A>G MANE Select ENSP00000475939.1:p.Lys1420Arg
ENST00000328843.10:c.4274A>G ENSP00000330671.7:p.Lys1425Arg
ENST00000409508.7:c.4259A>G ENSP00000475939.1:p.Lys1420Arg
ENST00000465593.1:n.285A>G
ENST00000620169.4:c.4274A>G ENSP00000481693.1:p.Lys1425Arg
NM_001277115.1:c.4259A>G NP_001264044.1:p.Lys1420Arg
NM_001277115.2:c.4259A>G MANE Select NP_001264044.1:p.Lys1420Arg