Canonical Allele Identifier: CA836622747
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1391088475
gnomAD v3: 7-21664317-T-G
gnomAD v4: 7-21664317-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21664317T>G , CM000669.2:g.21664317T>G GRCh38
NC_000007.13:g.21703935T>G , CM000669.1:g.21703935T>G GRCh37
NC_000007.12:g.21670460T>G NCBI36
NG_012886.2:g.126103T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.5328+5286T>G MANE Select ENSP00000475939.1:n.5328+5286T>G
ENST00000328843.10:c.5343+5286T>G ENSP00000330671.7:n.5343+5286T>G
ENST00000409508.7:c.5328+5286T>G ENSP00000475939.1:n.5328+5286T>G
ENST00000620169.4:c.5343+5286T>G ENSP00000481693.1:n.5343+5286T>G
NM_001277115.1:c.5328+5286T>G NP_001264044.1:n.5328+5286T>G
NM_001277115.2:c.5328+5286T>G MANE Select NP_001264044.1:n.5328+5286T>G