Canonical Allele Identifier: CA4183051

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 2910144
• ClinVar RCV Id: RCV003651749
• dbSNP Id: rs774153301
• ExAC: 7:21920529 A / C
• gnomAD v2: 7-21920529-A-C
• gnomAD v3: 7-21880911-A-C
• gnomAD v4: 7-21880911-A-C
• MyVariant Identifiers: chr7:g.21920529A>C (hg19) ; chr7:g.21880911A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21880911A>C , CM000669.2:g.21880911A>C	GRCh38
NC_000007.13:g.21920529A>C , CM000669.1:g.21920529A>C	GRCh37
NC_000007.12:g.21887054A>C	NCBI36
NG_012886.2:g.342697A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12387+18A>C MANE Select	ENSP00000475939.1:n.12387+18A>C
ENST00000328843.10:c.12408+18A>C	ENSP00000330671.7:n.12408+18A>C
ENST00000409508.7:c.12387+18A>C	ENSP00000475939.1:n.12387+18A>C
ENST00000620169.4:c.12408+18A>C	ENSP00000481693.1:n.12408+18A>C
NM_001277115.1:c.12387+18A>C	NP_001264044.1:n.12387+18A>C
NM_001277115.2:c.12387+18A>C MANE Select	NP_001264044.1:n.12387+18A>C