Canonical Allele Identifier: CA4183299

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 238897
• ClinVar RCV Id: RCV000227626 ; RCV003992243
• dbSNP Id: rs148707462
• ExAC: 7:21939017 G / A
• gnomAD v2: 7-21939017-G-A
• gnomAD v3: 7-21899399-G-A
• gnomAD v4: 7-21899399-G-A
• MyVariant Identifiers: chr7:g.21939017G>A (hg19) ; chr7:g.21899399G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21899399G>A , CM000669.2:g.21899399G>A	GRCh38
NC_000007.13:g.21939017G>A , CM000669.1:g.21939017G>A	GRCh37
NC_000007.12:g.21905542G>A	NCBI36
NG_012886.2:g.361185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.13113G>A MANE Select	ENSP00000475939.1:p.Pro4371=
ENST00000328843.10:c.13134G>A	ENSP00000330671.7:p.Pro4378=
ENST00000409508.7:c.13113G>A	ENSP00000475939.1:p.Pro4371=
ENST00000479878.1:n.484G>A
ENST00000620169.4:c.13134G>A	ENSP00000481693.1:p.Pro4378=
NM_001277115.1:c.13113G>A	NP_001264044.1:p.Pro4371=
NM_001277115.2:c.13113G>A MANE Select	NP_001264044.1:p.Pro4371=