Canonical Allele Identifier: CA155086920
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs898460025
gnomAD v2: 7-21639338-C-T
gnomAD v3: 7-21599720-C-T
gnomAD v4: 7-21599720-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599720C>T , CM000669.2:g.21599720C>T GRCh38
NC_000007.13:g.21639338C>T , CM000669.1:g.21639338C>T GRCh37
NC_000007.12:g.21605863C>T NCBI36
NG_012886.2:g.61506C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2668-67C>T MANE Select ENSP00000475939.1:n.2668-67C>T
ENST00000328843.10:c.2668-67C>T ENSP00000330671.7:n.2668-67C>T
ENST00000409508.7:c.2668-67C>T ENSP00000475939.1:n.2668-67C>T
ENST00000620169.4:c.2668-67C>T ENSP00000481693.1:n.2668-67C>T
NM_001277115.1:c.2668-67C>T NP_001264044.1:n.2668-67C>T
NM_001277115.2:c.2668-67C>T MANE Select NP_001264044.1:n.2668-67C>T