Canonical Allele Identifier: CA1099216998
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1786250927
gnomAD v3: 7-21748432-T-A
gnomAD v4: 7-21748432-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748432T>A , CM000669.2:g.21748432T>A GRCh38
NC_000007.13:g.21788050T>A , CM000669.1:g.21788050T>A GRCh37
NC_000007.12:g.21754575T>A NCBI36
NG_012886.2:g.210218T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8511-148T>A MANE Select ENSP00000475939.1:n.8511-148T>A
ENST00000328843.10:c.8532-148T>A ENSP00000330671.7:n.8532-148T>A
ENST00000409508.7:c.8511-148T>A ENSP00000475939.1:n.8511-148T>A
ENST00000620169.4:c.8532-148T>A ENSP00000481693.1:n.8532-148T>A
NM_001277115.1:c.8511-148T>A NP_001264044.1:n.8511-148T>A
NM_001277115.2:c.8511-148T>A MANE Select NP_001264044.1:n.8511-148T>A