Canonical Allele Identifier: CA4182353
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 238888
dbSNP Id: rs141112088
gnomAD v2: 7-21856143-C-T
gnomAD v3: 7-21816525-C-T
gnomAD v4: 7-21816525-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816525C>T , CM000669.2:g.21816525C>T GRCh38
NC_000007.13:g.21856143C>T , CM000669.1:g.21856143C>T GRCh37
NC_000007.12:g.21822668C>T NCBI36
NG_012886.2:g.278311C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10391C>T MANE Select ENSP00000475939.1:p.Thr3464Ile
ENST00000328843.10:c.10412C>T ENSP00000330671.7:p.Thr3471Ile
ENST00000409508.7:c.10391C>T ENSP00000475939.1:p.Thr3464Ile
ENST00000620169.4:c.10412C>T ENSP00000481693.1:p.Thr3471Ile
NM_001277115.1:c.10391C>T NP_001264044.1:p.Thr3464Ile
NM_001277115.2:c.10391C>T MANE Select NP_001264044.1:p.Thr3464Ile