Canonical Allele Identifier: CA4179446

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359618
• ClinVar RCV Id: RCV000278005 ; RCV000858614
• dbSNP Id: rs189569144
• ExAC: 7:21639561 C / A
• gnomAD v2: 7-21639561-C-A
• gnomAD v3: 7-21599943-C-A
• gnomAD v4: 7-21599943-C-A
• MyVariant Identifiers: chr7:g.21639561C>A (hg19) ; chr7:g.21599943C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21599943C>A , CM000669.2:g.21599943C>A	GRCh38
NC_000007.13:g.21639561C>A , CM000669.1:g.21639561C>A	GRCh37
NC_000007.12:g.21606086C>A	NCBI36
NG_012886.2:g.61729C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.2824C>A MANE Select	ENSP00000475939.1:p.Pro942Thr
ENST00000328843.10:c.2824C>A	ENSP00000330671.7:p.Pro942Thr
ENST00000409508.7:c.2824C>A	ENSP00000475939.1:p.Pro942Thr
ENST00000620169.4:c.2824C>A	ENSP00000481693.1:p.Pro942Thr
NM_001277115.1:c.2824C>A	NP_001264044.1:p.Pro942Thr
NM_001277115.2:c.2824C>A MANE Select	NP_001264044.1:p.Pro942Thr