Canonical Allele Identifier: CA16618448
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 419646
ClinVar RCV Id: RCV000481858
dbSNP Id: rs1064794014
gnomAD v4: 7-21571804-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21571804A>G , CM000669.2:g.21571804A>G GRCh38
NC_000007.13:g.21611422A>G , CM000669.1:g.21611422A>G GRCh37
NC_000007.12:g.21577947A>G NCBI36
NG_012886.2:g.33590A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.1426-2A>G MANE Select ENSP00000475939.1:n.1426-2A>G
ENST00000328843.10:c.1426-2A>G ENSP00000330671.7:n.1426-2A>G
ENST00000409508.7:c.1426-2A>G ENSP00000475939.1:n.1426-2A>G
ENST00000620169.4:c.1426-2A>G ENSP00000481693.1:n.1426-2A>G
NM_001277115.1:c.1426-2A>G NP_001264044.1:n.1426-2A>G
XR_927090.1:n.563+1522T>C
XR_001745114.1:n.2793+1522T>C
NM_001277115.2:c.1426-2A>G MANE Select NP_001264044.1:n.1426-2A>G