Canonical Allele Identifier: CA246938

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 198347
• ClinVar RCV Id: RCV000218296 ; RCV000226017 ; RCV000723974 ; RCV001160743 ; RCV000735289 ; RCV004537494
• dbSNP Id: rs370932895
• ExAC: 7:21856224 G / A
• gnomAD v2: 7-21856224-G-A
• gnomAD v3: 7-21816606-G-A
• gnomAD v4: 7-21816606-G-A
• MyVariant Identifiers: chr7:g.21856224G>A (hg19) ; chr7:g.21816606G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21816606G>A , CM000669.2:g.21816606G>A	GRCh38
NC_000007.13:g.21856224G>A , CM000669.1:g.21856224G>A	GRCh37
NC_000007.12:g.21822749G>A	NCBI36
NG_012886.2:g.278392G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.10472G>A MANE Select	ENSP00000475939.1:p.Arg3491His
ENST00000328843.10:c.10493G>A	ENSP00000330671.7:p.Arg3498His
ENST00000409508.7:c.10472G>A	ENSP00000475939.1:p.Arg3491His
ENST00000620169.4:c.10493G>A	ENSP00000481693.1:p.Arg3498His
NM_001277115.1:c.10472G>A	NP_001264044.1:p.Arg3491His
NM_001277115.2:c.10472G>A MANE Select	NP_001264044.1:p.Arg3491His