Canonical Allele Identifier: CA4182605
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs755721111
gnomAD v2: 7-21893901-T-G
gnomAD v3: 7-21854283-T-G
gnomAD v4: 7-21854283-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21854283T>G , CM000669.2:g.21854283T>G GRCh38
NC_000007.13:g.21893901T>G , CM000669.1:g.21893901T>G GRCh37
NC_000007.12:g.21860426T>G NCBI36
NG_012886.2:g.316069T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.11062-32T>G MANE Select ENSP00000475939.1:n.11062-32T>G
ENST00000328843.10:c.11083-32T>G ENSP00000330671.7:n.11083-32T>G
ENST00000409508.7:c.11062-32T>G ENSP00000475939.1:n.11062-32T>G
ENST00000421290.1:n.245-32T>G
ENST00000607413.5:n.325-32T>G
ENST00000620169.4:c.11083-32T>G ENSP00000481693.1:n.11083-32T>G
NM_001277115.1:c.11062-32T>G NP_001264044.1:n.11062-32T>G
NM_001277115.2:c.11062-32T>G MANE Select NP_001264044.1:n.11062-32T>G