Canonical Allele Identifier: CA155158885
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs146967144
gnomAD v3: 7-21880892-A-C
gnomAD v4: 7-21880892-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880892A>C , CM000669.2:g.21880892A>C GRCh38
NC_000007.13:g.21920510A>C , CM000669.1:g.21920510A>C GRCh37
NC_000007.12:g.21887035A>C NCBI36
NG_012886.2:g.342678A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12386A>C MANE Select ENSP00000475939.1:p.Lys4129Thr
ENST00000328843.10:c.12407A>C ENSP00000330671.7:p.Lys4136Thr
ENST00000409508.7:c.12386A>C ENSP00000475939.1:p.Lys4129Thr
ENST00000620169.4:c.12407A>C ENSP00000481693.1:p.Lys4136Thr
NM_001277115.1:c.12386A>C NP_001264044.1:p.Lys4129Thr
NM_001277115.2:c.12386A>C MANE Select NP_001264044.1:p.Lys4129Thr