Canonical Allele Identifier: CA4182743
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs754427666
gnomAD v2: 7-21904195-T-A
gnomAD v4: 7-21864577-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21864577T>A , CM000669.2:g.21864577T>A GRCh38
NC_000007.13:g.21904195T>A , CM000669.1:g.21904195T>A GRCh37
NC_000007.12:g.21870720T>A NCBI36
NG_012886.2:g.326363T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.11416T>A MANE Select ENSP00000475939.1:p.Phe3806Ile
ENST00000328843.10:c.11437T>A ENSP00000330671.7:p.Phe3813Ile
ENST00000409508.7:c.11416T>A ENSP00000475939.1:p.Phe3806Ile
ENST00000620169.4:c.11437T>A ENSP00000481693.1:p.Phe3813Ile
NM_001277115.1:c.11416T>A NP_001264044.1:p.Phe3806Ile
NM_001277115.2:c.11416T>A MANE Select NP_001264044.1:p.Phe3806Ile