Canonical Allele Identifier: CA4178605

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359593
• ClinVar RCV Id: RCV000405390 ; RCV001574469
• dbSNP Id: rs72655966
• ExAC: 7:21582837 C / A
• gnomAD v2: 7-21582837-C-A
• gnomAD v3: 7-21543219-C-A
• gnomAD v4: 7-21543219-C-A
• MyVariant Identifiers: chr7:g.21582837C>A (hg19) ; chr7:g.21543219C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21543219C>A , CM000669.2:g.21543219C>A	GRCh38
NC_000007.13:g.21582837C>A , CM000669.1:g.21582837C>A	GRCh37
NC_000007.12:g.21549362C>A	NCBI36
NG_012886.2:g.5005C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.-27C>A MANE Select	ENSP00000475939.1:n.-27C>A
ENST00000328843.10:c.-27C>A	ENSP00000330671.7:n.-27C>A
ENST00000409508.7:c.-27C>A	ENSP00000475939.1:n.-27C>A
ENST00000620169.4:c.-27C>A	ENSP00000481693.1:n.-27C>A
NM_001277115.1:c.-27C>A	NP_001264044.1:n.-27C>A
NM_001277115.2:c.-27C>A MANE Select	NP_001264044.1:n.-27C>A