Canonical Allele Identifier: CA4180519

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359638
• ClinVar RCV Id: RCV000334258
• dbSNP Id: rs750672801
• ExAC: 7:21726797 A / C
• gnomAD v2: 7-21726797-A-C
• gnomAD v3: 7-21687179-A-C
• gnomAD v4: 7-21687179-A-C
• MyVariant Identifiers: chr7:g.21726797A>C (hg19) ; chr7:g.21687179A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21687179A>C , CM000669.2:g.21687179A>C	GRCh38
NC_000007.13:g.21726797A>C , CM000669.1:g.21726797A>C	GRCh37
NC_000007.12:g.21693322A>C	NCBI36
NG_012886.2:g.148965A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.5702A>C MANE Select	ENSP00000475939.1:p.Glu1901Ala
ENST00000328843.10:c.5723A>C	ENSP00000330671.7:p.Glu1908Ala
ENST00000409508.7:c.5702A>C	ENSP00000475939.1:p.Glu1901Ala
ENST00000620169.4:c.5723A>C	ENSP00000481693.1:p.Glu1908Ala
NM_001277115.1:c.5702A>C	NP_001264044.1:p.Glu1901Ala
NM_001277115.2:c.5702A>C MANE Select	NP_001264044.1:p.Glu1901Ala