Canonical Allele Identifier: CA573292269
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1268993309
gnomAD v2: 7-21639263-G-A
gnomAD v3: 7-21599645-G-A
gnomAD v4: 7-21599645-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599645G>A , CM000669.2:g.21599645G>A GRCh38
NC_000007.13:g.21639263G>A , CM000669.1:g.21639263G>A GRCh37
NC_000007.12:g.21605788G>A NCBI36
NG_012886.2:g.61431G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2668-142G>A MANE Select ENSP00000475939.1:n.2668-142G>A
ENST00000328843.10:c.2668-142G>A ENSP00000330671.7:n.2668-142G>A
ENST00000409508.7:c.2668-142G>A ENSP00000475939.1:n.2668-142G>A
ENST00000620169.4:c.2668-142G>A ENSP00000481693.1:n.2668-142G>A
NM_001277115.1:c.2668-142G>A NP_001264044.1:n.2668-142G>A
NM_001277115.2:c.2668-142G>A MANE Select NP_001264044.1:n.2668-142G>A