Canonical Allele Identifier: CA4180324

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359631
• ClinVar RCV Id: RCV000356623
• dbSNP Id: rs149538783
• ExAC: 7:21698478 A / G
• gnomAD v2: 7-21698478-A-G
• gnomAD v3: 7-21658860-A-G
• gnomAD v4: 7-21658860-A-G
• MyVariant Identifiers: chr7:g.21698478A>G (hg19) ; chr7:g.21658860A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21658860A>G , CM000669.2:g.21658860A>G	GRCh38
NC_000007.13:g.21698478A>G , CM000669.1:g.21698478A>G	GRCh37
NC_000007.12:g.21665003A>G	NCBI36
NG_012886.2:g.120646A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.5157A>G MANE Select	ENSP00000475939.1:p.Thr1719=
ENST00000328843.10:c.5172A>G	ENSP00000330671.7:p.Thr1724=
ENST00000409508.7:c.5157A>G	ENSP00000475939.1:p.Thr1719=
ENST00000620169.4:c.5172A>G	ENSP00000481693.1:p.Thr1724=
NM_001277115.1:c.5157A>G	NP_001264044.1:p.Thr1719=
NM_001277115.2:c.5157A>G MANE Select	NP_001264044.1:p.Thr1719=