Canonical Allele Identifier: CA175743

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 163118
• ClinVar RCV Id: RCV000150449 ; RCV000767007 ; RCV001080094 ; RCV001164291
• dbSNP Id: rs72657389
• ExAC: 7:21828869 A / T
• gnomAD v2: 7-21828869-A-T
• gnomAD v3: 7-21789251-A-T
• gnomAD v4: 7-21789251-A-T
• MyVariant Identifiers: chr7:g.21828869A>T (hg19) ; chr7:g.21789251A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21789251A>T , CM000669.2:g.21789251A>T	GRCh38
NC_000007.13:g.21828869A>T , CM000669.1:g.21828869A>T	GRCh37
NC_000007.12:g.21795394A>T	NCBI36
NG_012886.2:g.251037A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.9935A>T MANE Select	ENSP00000475939.1:p.Asp3312Val
ENST00000328843.10:c.9956A>T	ENSP00000330671.7:p.Asp3319Val
ENST00000409508.7:c.9935A>T	ENSP00000475939.1:p.Asp3312Val
ENST00000620169.4:c.9956A>T	ENSP00000481693.1:p.Asp3319Val
NM_001277115.1:c.9935A>T	NP_001264044.1:p.Asp3312Val
NM_001277115.2:c.9935A>T MANE Select	NP_001264044.1:p.Asp3312Val