Canonical Allele Identifier: CA4180323

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 410831
• ClinVar RCV Id: RCV000470107 ; RCV002470863
• dbSNP Id: rs369965539
• ExAC: 7:21698476 A / G
• gnomAD v2: 7-21698476-A-G
• gnomAD v3: 7-21658858-A-G
• gnomAD v4: 7-21658858-A-G
• MyVariant Identifiers: chr7:g.21698476A>G (hg19) ; chr7:g.21658858A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21658858A>G , CM000669.2:g.21658858A>G	GRCh38
NC_000007.13:g.21698476A>G , CM000669.1:g.21698476A>G	GRCh37
NC_000007.12:g.21665001A>G	NCBI36
NG_012886.2:g.120644A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.5155A>G MANE Select	ENSP00000475939.1:p.Thr1719Ala
ENST00000328843.10:c.5170A>G	ENSP00000330671.7:p.Thr1724Ala
ENST00000409508.7:c.5155A>G	ENSP00000475939.1:p.Thr1719Ala
ENST00000620169.4:c.5170A>G	ENSP00000481693.1:p.Thr1724Ala
NM_001277115.1:c.5155A>G	NP_001264044.1:p.Thr1719Ala
NM_001277115.2:c.5155A>G MANE Select	NP_001264044.1:p.Thr1719Ala