Canonical Allele Identifier: CA366938016
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21705463-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21705463G>A , CM000669.2:g.21705463G>A GRCh38
NC_000007.13:g.21745081G>A , CM000669.1:g.21745081G>A GRCh37
NC_000007.12:g.21711606G>A NCBI36
NG_012886.2:g.167249G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.6472G>A MANE Select ENSP00000475939.1:p.Val2158Ile
ENST00000328843.10:c.6493G>A ENSP00000330671.7:p.Val2165Ile
ENST00000409508.7:c.6472G>A ENSP00000475939.1:p.Val2158Ile
ENST00000620169.4:c.6493G>A ENSP00000481693.1:p.Val2165Ile
NM_001277115.1:c.6472G>A NP_001264044.1:p.Val2158Ile
NM_001277115.2:c.6472G>A MANE Select NP_001264044.1:p.Val2158Ile