Canonical Allele Identifier: CA248936

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 218583
• ClinVar RCV Id: RCV000202747 ; RCV000430697 ; RCV001081984
• dbSNP Id: rs72655967
• ExAC: 7:21582921 C / A
• gnomAD v2: 7-21582921-C-A
• gnomAD v3: 7-21543303-C-A
• gnomAD v4: 7-21543303-C-A
• MyVariant Identifiers: chr7:g.21582921C>A (hg19) ; chr7:g.21543303C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21543303C>A , CM000669.2:g.21543303C>A	GRCh38
NC_000007.13:g.21582921C>A , CM000669.1:g.21582921C>A	GRCh37
NC_000007.12:g.21549446C>A	NCBI36
NG_012886.2:g.5089C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.58C>A MANE Select	ENSP00000475939.1:p.Arg20Ser
ENST00000328843.10:c.58C>A	ENSP00000330671.7:p.Arg20Ser
ENST00000409508.7:c.58C>A	ENSP00000475939.1:p.Arg20Ser
ENST00000620169.4:c.58C>A	ENSP00000481693.1:p.Arg20Ser
NM_001277115.1:c.58C>A	NP_001264044.1:p.Arg20Ser
NM_001277115.2:c.58C>A MANE Select	NP_001264044.1:p.Arg20Ser