Canonical Allele Identifier: CA185731

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 180063
• ClinVar RCV Id: RCV000156866 ; RCV001392556
• dbSNP Id: rs727505321
• ExAC: 7:21744215 G / A
• gnomAD v2: 7-21744215-G-A
• gnomAD v3: 7-21704597-G-A
• gnomAD v4: 7-21704597-G-A
• MyVariant Identifiers: chr7:g.21744215G>A (hg19) ; chr7:g.21704597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21704597G>A , CM000669.2:g.21704597G>A	GRCh38
NC_000007.13:g.21744215G>A , CM000669.1:g.21744215G>A	GRCh37
NC_000007.12:g.21710740G>A	NCBI36
NG_012886.2:g.166383G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6437G>A MANE Select	ENSP00000475939.1:p.Arg2146His
ENST00000328843.10:c.6458G>A	ENSP00000330671.7:p.Arg2153His
ENST00000409508.7:c.6437G>A	ENSP00000475939.1:p.Arg2146His
ENST00000620169.4:c.6458G>A	ENSP00000481693.1:p.Arg2153His
NM_001277115.1:c.6437G>A	NP_001264044.1:p.Arg2146His
NM_001277115.2:c.6437G>A MANE Select	NP_001264044.1:p.Arg2146His