Canonical Allele Identifier: CA572917793
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1277295729
gnomAD v2: 7-21658712-A-C
gnomAD v3: 7-21619094-A-C
gnomAD v4: 7-21619094-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619094A>C , CM000669.2:g.21619094A>C GRCh38
NC_000007.13:g.21658712A>C , CM000669.1:g.21658712A>C GRCh37
NC_000007.12:g.21625237A>C NCBI36
NG_012886.2:g.80880A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4255-6A>C MANE Select ENSP00000475939.1:n.4255-6A>C
ENST00000328843.10:c.4270-6A>C ENSP00000330671.7:n.4270-6A>C
ENST00000409508.7:c.4255-6A>C ENSP00000475939.1:n.4255-6A>C
ENST00000465593.1:n.281-6A>C
ENST00000620169.4:c.4270-6A>C ENSP00000481693.1:n.4270-6A>C
NM_001277115.1:c.4255-6A>C NP_001264044.1:n.4255-6A>C
NM_001277115.2:c.4255-6A>C MANE Select NP_001264044.1:n.4255-6A>C