Canonical Allele Identifier: CA175737

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 163114
• ClinVar RCV Id: RCV000150445 ; RCV000234300 ; RCV003436958 ; RCV003615820
• dbSNP Id: rs189821372
• ExAC: 7:21789835 G / A
• gnomAD v2: 7-21789835-G-A
• gnomAD v3: 7-21750217-G-A
• gnomAD v4: 7-21750217-G-A
• MyVariant Identifiers: chr7:g.21789835G>A (hg19) ; chr7:g.21750217G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21750217G>A , CM000669.2:g.21750217G>A	GRCh38
NC_000007.13:g.21789835G>A , CM000669.1:g.21789835G>A	GRCh37
NC_000007.12:g.21756360G>A	NCBI36
NG_012886.2:g.212003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.8798-5G>A MANE Select	ENSP00000475939.1:n.8798-5G>A
ENST00000328843.10:c.8819-5G>A	ENSP00000330671.7:n.8819-5G>A
ENST00000409508.7:c.8798-5G>A	ENSP00000475939.1:n.8798-5G>A
ENST00000620169.4:c.8819-5G>A	ENSP00000481693.1:n.8819-5G>A
NM_001277115.1:c.8798-5G>A	NP_001264044.1:n.8798-5G>A
NM_001277115.2:c.8798-5G>A MANE Select	NP_001264044.1:n.8798-5G>A