Canonical Allele Identifier: CA175740

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 163116
• ClinVar RCV Id: RCV000150447 ; RCV000230982 ; RCV001705980 ; RCV001729408
• dbSNP Id: rs35865357
• ExAC: 7:21805095 G / A
• gnomAD v2: 7-21805095-G-A
• gnomAD v3: 7-21765477-G-A
• gnomAD v4: 7-21765477-G-A
• MyVariant Identifiers: chr7:g.21805095G>A (hg19) ; chr7:g.21765477G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21765477G>A , CM000669.2:g.21765477G>A	GRCh38
NC_000007.13:g.21805095G>A , CM000669.1:g.21805095G>A	GRCh37
NC_000007.12:g.21771620G>A	NCBI36
NG_012886.2:g.227263G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.8990G>A MANE Select	ENSP00000475939.1:p.Arg2997Gln
ENST00000328843.10:c.9011G>A	ENSP00000330671.7:p.Arg3004Gln
ENST00000409508.7:c.8990G>A	ENSP00000475939.1:p.Arg2997Gln
ENST00000620169.4:c.9011G>A	ENSP00000481693.1:p.Arg3004Gln
NM_001277115.1:c.8990G>A	NP_001264044.1:p.Arg2997Gln
NM_001277115.2:c.8990G>A MANE Select	NP_001264044.1:p.Arg2997Gln