Canonical Allele Identifier: CA175747

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 163120
• ClinVar RCV Id: RCV000150451 ; RCV000705884 ; RCV002051817
• dbSNP Id: rs727502969
• ExAC: 7:21856193 G / A
• gnomAD v2: 7-21856193-G-A
• gnomAD v3: 7-21816575-G-A
• gnomAD v4: 7-21816575-G-A
• COSMIC: COSM3431500 ; COSM3431501
• MyVariant Identifiers: chr7:g.21856193G>A (hg19) ; chr7:g.21816575G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21816575G>A , CM000669.2:g.21816575G>A	GRCh38
NC_000007.13:g.21856193G>A , CM000669.1:g.21856193G>A	GRCh37
NC_000007.12:g.21822718G>A	NCBI36
NG_012886.2:g.278361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.10441G>A MANE Select	ENSP00000475939.1:p.Glu3481Lys
ENST00000328843.10:c.10462G>A	ENSP00000330671.7:p.Glu3488Lys
ENST00000409508.7:c.10441G>A	ENSP00000475939.1:p.Glu3481Lys
ENST00000620169.4:c.10462G>A	ENSP00000481693.1:p.Glu3488Lys
NM_001277115.1:c.10441G>A	NP_001264044.1:p.Glu3481Lys
NM_001277115.2:c.10441G>A MANE Select	NP_001264044.1:p.Glu3481Lys