Canonical Allele Identifier: CA4180820

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257919
• ClinVar RCV Id: RCV000244883 ; RCV000305188
• dbSNP Id: rs114409690
• ExAC: 7:21744260 T / C
• gnomAD v2: 7-21744260-T-C
• gnomAD v3: 7-21704642-T-C
• gnomAD v4: 7-21704642-T-C
• MyVariant Identifiers: chr7:g.21744260T>C (hg19) ; chr7:g.21704642T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21704642T>C , CM000669.2:g.21704642T>C	GRCh38
NC_000007.13:g.21744260T>C , CM000669.1:g.21744260T>C	GRCh37
NC_000007.12:g.21710785T>C	NCBI36
NG_012886.2:g.166428T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6468+14T>C MANE Select	ENSP00000475939.1:n.6468+14T>C
ENST00000328843.10:c.6489+14T>C	ENSP00000330671.7:n.6489+14T>C
ENST00000409508.7:c.6468+14T>C	ENSP00000475939.1:n.6468+14T>C
ENST00000620169.4:c.6489+14T>C	ENSP00000481693.1:n.6489+14T>C
NM_001277115.1:c.6468+14T>C	NP_001264044.1:n.6468+14T>C
NM_001277115.2:c.6468+14T>C MANE Select	NP_001264044.1:n.6468+14T>C