Canonical Allele Identifier: CA4182608
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs754491846
gnomAD v2: 7-21893925-C-A
gnomAD v4: 7-21854307-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21854307C>A , CM000669.2:g.21854307C>A GRCh38
NC_000007.13:g.21893925C>A , CM000669.1:g.21893925C>A GRCh37
NC_000007.12:g.21860450C>A NCBI36
NG_012886.2:g.316093C>A

Transcript Alleles

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