Canonical Allele Identifier: CA366952582
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21619149-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619149T>C , CM000669.2:g.21619149T>C GRCh38
NC_000007.13:g.21658767T>C , CM000669.1:g.21658767T>C GRCh37
NC_000007.12:g.21625292T>C NCBI36
NG_012886.2:g.80935T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4304T>C MANE Select ENSP00000475939.1:p.Leu1435Pro
ENST00000328843.10:c.4319T>C ENSP00000330671.7:p.Leu1440Pro
ENST00000409508.7:c.4304T>C ENSP00000475939.1:p.Leu1435Pro
ENST00000465593.1:n.330T>C
ENST00000620169.4:c.4319T>C ENSP00000481693.1:p.Leu1440Pro
NM_001277115.1:c.4304T>C NP_001264044.1:p.Leu1435Pro
NM_001277115.2:c.4304T>C MANE Select NP_001264044.1:p.Leu1435Pro