Canonical Allele Identifier: CA2578843013
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21704366-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21704366C>T , CM000669.2:g.21704366C>T GRCh38
NC_000007.13:g.21743984C>T , CM000669.1:g.21743984C>T GRCh37
NC_000007.12:g.21710509C>T NCBI36
NG_012886.2:g.166152C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.6274-68C>T MANE Select ENSP00000475939.1:n.6274-68C>T
ENST00000328843.10:c.6295-68C>T ENSP00000330671.7:n.6295-68C>T
ENST00000409508.7:c.6274-68C>T ENSP00000475939.1:n.6274-68C>T
ENST00000620169.4:c.6295-68C>T ENSP00000481693.1:n.6295-68C>T
NM_001277115.1:c.6274-68C>T NP_001264044.1:n.6274-68C>T
NM_001277115.2:c.6274-68C>T MANE Select NP_001264044.1:n.6274-68C>T