Canonical Allele Identifier: CA4182726
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs766943850
gnomAD v2: 7-21904108-T-C
gnomAD v4: 7-21864490-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21864490T>C , CM000669.2:g.21864490T>C GRCh38
NC_000007.13:g.21904108T>C , CM000669.1:g.21904108T>C GRCh37
NC_000007.12:g.21870633T>C NCBI36
NG_012886.2:g.326276T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.11374-45T>C MANE Select ENSP00000475939.1:n.11374-45T>C
ENST00000328843.10:c.11395-45T>C ENSP00000330671.7:n.11395-45T>C
ENST00000409508.7:c.11374-45T>C ENSP00000475939.1:n.11374-45T>C
ENST00000620169.4:c.11395-45T>C ENSP00000481693.1:n.11395-45T>C
NM_001277115.1:c.11374-45T>C NP_001264044.1:n.11374-45T>C
NM_001277115.2:c.11374-45T>C MANE Select NP_001264044.1:n.11374-45T>C