Canonical Allele Identifier: CA4182679

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359677
• ClinVar RCV Id: RCV000319457 ; RCV000764704
• dbSNP Id: rs199864090
• ExAC: 7:21901517 T / G
• gnomAD v2: 7-21901517-T-G
• gnomAD v3: 7-21861899-T-G
• gnomAD v4: 7-21861899-T-G
• MyVariant Identifiers: chr7:g.21901517T>G (hg19) ; chr7:g.21861899T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21861899T>G , CM000669.2:g.21861899T>G	GRCh38
NC_000007.13:g.21901517T>G , CM000669.1:g.21901517T>G	GRCh37
NC_000007.12:g.21868042T>G	NCBI36
NG_012886.2:g.323685T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.11249T>G MANE Select	ENSP00000475939.1:p.Val3750Gly
ENST00000328843.10:c.11270T>G	ENSP00000330671.7:p.Val3757Gly
ENST00000409508.7:c.11249T>G	ENSP00000475939.1:p.Val3750Gly
ENST00000421290.1:n.432T>G
ENST00000607413.5:n.512T>G
ENST00000620169.4:c.11270T>G	ENSP00000481693.1:p.Val3757Gly
NM_001277115.1:c.11249T>G	NP_001264044.1:p.Val3750Gly
NM_001277115.2:c.11249T>G MANE Select	NP_001264044.1:p.Val3750Gly