Canonical Allele Identifier: CA4180779
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs774774317
gnomAD v2: 7-21744090-A-C
gnomAD v4: 7-21704472-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21704472A>C , CM000669.2:g.21704472A>C GRCh38
NC_000007.13:g.21744090A>C , CM000669.1:g.21744090A>C GRCh37
NC_000007.12:g.21710615A>C NCBI36
NG_012886.2:g.166258A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.6312A>C MANE Select ENSP00000475939.1:p.Lys2104Asn
ENST00000328843.10:c.6333A>C ENSP00000330671.7:p.Lys2111Asn
ENST00000409508.7:c.6312A>C ENSP00000475939.1:p.Lys2104Asn
ENST00000620169.4:c.6333A>C ENSP00000481693.1:p.Lys2111Asn
NM_001277115.1:c.6312A>C NP_001264044.1:p.Lys2104Asn
NM_001277115.2:c.6312A>C MANE Select NP_001264044.1:p.Lys2104Asn