Canonical Allele Identifier: CA4183287

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257867
• ClinVar RCV Id: RCV000247626 ; RCV000300965 ; RCV003333965
• dbSNP Id: rs113653972
• ExAC: 7:21938980 G / A
• gnomAD v2: 7-21938980-G-A
• gnomAD v3: 7-21899362-G-A
• gnomAD v4: 7-21899362-G-A
• MyVariant Identifiers: chr7:g.21938980G>A (hg19) ; chr7:g.21899362G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21899362G>A , CM000669.2:g.21899362G>A	GRCh38
NC_000007.13:g.21938980G>A , CM000669.1:g.21938980G>A	GRCh37
NC_000007.12:g.21905505G>A	NCBI36
NG_012886.2:g.361148G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.13076G>A MANE Select	ENSP00000475939.1:p.Arg4359Gln
ENST00000328843.10:c.13097G>A	ENSP00000330671.7:p.Arg4366Gln
ENST00000409508.7:c.13076G>A	ENSP00000475939.1:p.Arg4359Gln
ENST00000479878.1:n.447G>A
ENST00000620169.4:c.13097G>A	ENSP00000481693.1:p.Arg4366Gln
NM_001277115.1:c.13076G>A	NP_001264044.1:p.Arg4359Gln
NM_001277115.2:c.13076G>A MANE Select	NP_001264044.1:p.Arg4359Gln