Canonical Allele Identifier: CA366952491
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2400380
ClinVar RCV Id: RCV004236199

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4259A>C MANE Select ENSP00000475939.1:p.Lys1420Thr
ENST00000328843.10:c.4274A>C ENSP00000330671.7:p.Lys1425Thr
ENST00000409508.7:c.4259A>C ENSP00000475939.1:p.Lys1420Thr
ENST00000465593.1:n.285A>C
ENST00000620169.4:c.4274A>C ENSP00000481693.1:p.Lys1425Thr
NM_001277115.1:c.4259A>C NP_001264044.1:p.Lys1420Thr
NM_001277115.2:c.4259A>C MANE Select NP_001264044.1:p.Lys1420Thr