Canonical Allele Identifier: CA155159362
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1017625457
gnomAD v2: 7-21920862-A-G
gnomAD v3: 7-21881244-A-G
gnomAD v4: 7-21881244-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21881244A>G , CM000669.2:g.21881244A>G GRCh38
NC_000007.13:g.21920862A>G , CM000669.1:g.21920862A>G GRCh37
NC_000007.12:g.21887387A>G NCBI36
NG_012886.2:g.343030A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12387+351A>G MANE Select ENSP00000475939.1:n.12387+351A>G
ENST00000328843.10:c.12408+351A>G ENSP00000330671.7:n.12408+351A>G
ENST00000409508.7:c.12387+351A>G ENSP00000475939.1:n.12387+351A>G
ENST00000620169.4:c.12408+351A>G ENSP00000481693.1:n.12408+351A>G
NM_001277115.1:c.12387+351A>G NP_001264044.1:n.12387+351A>G
NM_001277115.2:c.12387+351A>G MANE Select NP_001264044.1:n.12387+351A>G