Canonical Allele Identifier: CA4179426
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs773461950
gnomAD v2: 7-21639505-T-C
gnomAD v4: 7-21599887-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599887T>C , CM000669.2:g.21599887T>C GRCh38
NC_000007.13:g.21639505T>C , CM000669.1:g.21639505T>C GRCh37
NC_000007.12:g.21606030T>C NCBI36
NG_012886.2:g.61673T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2768T>C MANE Select ENSP00000475939.1:p.Ile923Thr
ENST00000328843.10:c.2768T>C ENSP00000330671.7:p.Ile923Thr
ENST00000409508.7:c.2768T>C ENSP00000475939.1:p.Ile923Thr
ENST00000620169.4:c.2768T>C ENSP00000481693.1:p.Ile923Thr
NM_001277115.1:c.2768T>C NP_001264044.1:p.Ile923Thr
NM_001277115.2:c.2768T>C MANE Select NP_001264044.1:p.Ile923Thr