Canonical Allele Identifier: CA453968445
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21748607-C-T
MyVariant Identifiers: chr7:g.21788225C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748607C>T , CM000669.2:g.21748607C>T GRCh38
NC_000007.13:g.21788225C>T , CM000669.1:g.21788225C>T GRCh37
NC_000007.12:g.21754750C>T NCBI36
NG_012886.2:g.210393C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8538C>T MANE Select ENSP00000475939.1:p.Thr2846=
ENST00000328843.10:c.8559C>T ENSP00000330671.7:p.Thr2853=
ENST00000409508.7:c.8538C>T ENSP00000475939.1:p.Thr2846=
ENST00000620169.4:c.8559C>T ENSP00000481693.1:p.Thr2853=
NM_001277115.1:c.8538C>T NP_001264044.1:p.Thr2846=
NM_001277115.2:c.8538C>T MANE Select NP_001264044.1:p.Thr2846=