Canonical Allele Identifier: CA366964246
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21880891-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880891A>C , CM000669.2:g.21880891A>C GRCh38
NC_000007.13:g.21920509A>C , CM000669.1:g.21920509A>C GRCh37
NC_000007.12:g.21887034A>C NCBI36
NG_012886.2:g.342677A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12385A>C MANE Select ENSP00000475939.1:p.Lys4129Gln
ENST00000328843.10:c.12406A>C ENSP00000330671.7:p.Lys4136Gln
ENST00000409508.7:c.12385A>C ENSP00000475939.1:p.Lys4129Gln
ENST00000620169.4:c.12406A>C ENSP00000481693.1:p.Lys4136Gln
NM_001277115.1:c.12385A>C NP_001264044.1:p.Lys4129Gln
NM_001277115.2:c.12385A>C MANE Select NP_001264044.1:p.Lys4129Gln