Canonical Allele Identifier: CA147213

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 93691
• ClinVar RCV Id: RCV000079623 ; RCV000365104 ; RCV001705734 ; RCV002498399
• dbSNP Id: rs55666134
• ExAC: 7:21723431 G / A
• gnomAD v2: 7-21723431-G-A
• gnomAD v3: 7-21683813-G-A
• gnomAD v4: 7-21683813-G-A
• MyVariant Identifiers: chr7:g.21723431G>A (hg19) ; chr7:g.21683813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21683813G>A , CM000669.2:g.21683813G>A	GRCh38
NC_000007.13:g.21723431G>A , CM000669.1:g.21723431G>A	GRCh37
NC_000007.12:g.21689956G>A	NCBI36
NG_012886.2:g.145599G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409508.8:c.5490G>A MANE Select	ENSP00000475939.1:p.Leu1830=
ENST00000328843.10:c.5511G>A	ENSP00000330671.7:p.Leu1837=
ENST00000409508.7:c.5490G>A	ENSP00000475939.1:p.Leu1830=
ENST00000620169.4:c.5511G>A	ENSP00000481693.1:p.Leu1837=
NM_001277115.1:c.5490G>A	NP_001264044.1:p.Leu1830=
NM_001277115.2:c.5490G>A MANE Select	NP_001264044.1:p.Leu1830=