Canonical Allele Identifier: CA366959791
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21854336-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21854336G>C , CM000669.2:g.21854336G>C GRCh38
NC_000007.13:g.21893954G>C , CM000669.1:g.21893954G>C GRCh37
NC_000007.12:g.21860479G>C NCBI36
NG_012886.2:g.316122G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.11083G>C MANE Select ENSP00000475939.1:p.Glu3695Gln
ENST00000328843.10:c.11104G>C ENSP00000330671.7:p.Glu3702Gln
ENST00000409508.7:c.11083G>C ENSP00000475939.1:p.Glu3695Gln
ENST00000421290.1:n.266G>C
ENST00000607413.5:n.346G>C
ENST00000620169.4:c.11104G>C ENSP00000481693.1:p.Glu3702Gln
NM_001277115.1:c.11083G>C NP_001264044.1:p.Glu3695Gln
NM_001277115.2:c.11083G>C MANE Select NP_001264044.1:p.Glu3695Gln