Canonical Allele Identifier: CA4179961
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs893811102
gnomAD v2: 7-21658679-A-T
gnomAD v3: 7-21619061-A-T
gnomAD v4: 7-21619061-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619061A>T , CM000669.2:g.21619061A>T GRCh38
NC_000007.13:g.21658679A>T , CM000669.1:g.21658679A>T GRCh37
NC_000007.12:g.21625204A>T NCBI36
NG_012886.2:g.80847A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4255-39A>T MANE Select ENSP00000475939.1:n.4255-39A>T
ENST00000328843.10:c.4270-39A>T ENSP00000330671.7:n.4270-39A>T
ENST00000409508.7:c.4255-39A>T ENSP00000475939.1:n.4255-39A>T
ENST00000465593.1:n.281-39A>T
ENST00000620169.4:c.4270-39A>T ENSP00000481693.1:n.4270-39A>T
NM_001277115.1:c.4255-39A>T NP_001264044.1:n.4255-39A>T
NM_001277115.2:c.4255-39A>T MANE Select NP_001264044.1:n.4255-39A>T