Canonical Allele Identifier: CA246500

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 198018
• ClinVar RCV Id: RCV000179219 ; RCV000629407 ; RCV004537484
• dbSNP Id: rs141979671
• ExAC: 7:21826284 G / A
• gnomAD v2: 7-21826284-G-A
• gnomAD v3: 7-21786666-G-A
• gnomAD v4: 7-21786666-G-A
• MyVariant Identifiers: chr7:g.21826284G>A (hg19) ; chr7:g.21786666G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21786666G>A , CM000669.2:g.21786666G>A	GRCh38
NC_000007.13:g.21826284G>A , CM000669.1:g.21826284G>A	GRCh37
NC_000007.12:g.21792809G>A	NCBI36
NG_012886.2:g.248452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.9640G>A MANE Select	ENSP00000475939.1:p.Ala3214Thr
ENST00000328843.10:c.9661G>A	ENSP00000330671.7:p.Ala3221Thr
ENST00000409508.7:c.9640G>A	ENSP00000475939.1:p.Ala3214Thr
ENST00000620169.4:c.9661G>A	ENSP00000481693.1:p.Ala3221Thr
NM_001277115.1:c.9640G>A	NP_001264044.1:p.Ala3214Thr
NM_001277115.2:c.9640G>A MANE Select	NP_001264044.1:p.Ala3214Thr