Canonical Allele Identifier: CA155108670
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs747981794
gnomAD v2: 7-21658583-G-A
gnomAD v3: 7-21618965-G-A
gnomAD v4: 7-21618965-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21618965G>A , CM000669.2:g.21618965G>A GRCh38
NC_000007.13:g.21658583G>A , CM000669.1:g.21658583G>A GRCh37
NC_000007.12:g.21625108G>A NCBI36
NG_012886.2:g.80751G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4255-135G>A MANE Select ENSP00000475939.1:n.4255-135G>A
ENST00000328843.10:c.4270-135G>A ENSP00000330671.7:n.4270-135G>A
ENST00000409508.7:c.4255-135G>A ENSP00000475939.1:n.4255-135G>A
ENST00000465593.1:n.281-135G>A
ENST00000620169.4:c.4270-135G>A ENSP00000481693.1:n.4270-135G>A
NM_001277115.1:c.4255-135G>A NP_001264044.1:n.4255-135G>A
NM_001277115.2:c.4255-135G>A MANE Select NP_001264044.1:n.4255-135G>A