Canonical Allele Identifier: CA4180052

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 238919
• ClinVar RCV Id: RCV000250581 ; RCV000234696
• dbSNP Id: rs79119693
• ExAC: 7:21659651 A / G
• gnomAD v2: 7-21659651-A-G
• gnomAD v3: 7-21620033-A-G
• gnomAD v4: 7-21620033-A-G
• MyVariant Identifiers: chr7:g.21659651A>G (hg19) ; chr7:g.21620033A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21620033A>G , CM000669.2:g.21620033A>G	GRCh38
NC_000007.13:g.21659651A>G , CM000669.1:g.21659651A>G	GRCh37
NC_000007.12:g.21626176A>G	NCBI36
NG_012886.2:g.81819A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4455A>G MANE Select	ENSP00000475939.1:p.Leu1485=
ENST00000328843.10:c.4470A>G	ENSP00000330671.7:p.Leu1490=
ENST00000409508.7:c.4455A>G	ENSP00000475939.1:p.Leu1485=
ENST00000465593.1:n.481A>G
ENST00000620169.4:c.4470A>G	ENSP00000481693.1:p.Leu1490=
NM_001277115.1:c.4455A>G	NP_001264044.1:p.Leu1485=
NM_001277115.2:c.4455A>G MANE Select	NP_001264044.1:p.Leu1485=