Canonical Allele Identifier: CA179977

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 167001
• ClinVar RCV Id: RCV000153158 ; RCV000344393
• dbSNP Id: rs146362213
• ExAC: 7:21904181 C / G
• gnomAD v2: 7-21904181-C-G
• gnomAD v3: 7-21864563-C-G
• gnomAD v4: 7-21864563-C-G
• MyVariant Identifiers: chr7:g.21904181C>G (hg19) ; chr7:g.21864563C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21864563C>G , CM000669.2:g.21864563C>G	GRCh38
NC_000007.13:g.21904181C>G , CM000669.1:g.21904181C>G	GRCh37
NC_000007.12:g.21870706C>G	NCBI36
NG_012886.2:g.326349C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.11402C>G MANE Select	ENSP00000475939.1:p.Pro3801Arg
ENST00000328843.10:c.11423C>G	ENSP00000330671.7:p.Pro3808Arg
ENST00000409508.7:c.11402C>G	ENSP00000475939.1:p.Pro3801Arg
ENST00000620169.4:c.11423C>G	ENSP00000481693.1:p.Pro3808Arg
NM_001277115.1:c.11402C>G	NP_001264044.1:p.Pro3801Arg
NM_001277115.2:c.11402C>G MANE Select	NP_001264044.1:p.Pro3801Arg