Canonical Allele Identifier: CA4183111

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 281622
• ClinVar RCV Id: RCV000279310 ; RCV001078867 ; RCV001161099
• dbSNP Id: rs12537531
• ExAC: 7:21932044 C / G
• gnomAD v2: 7-21932044-C-G
• gnomAD v3: 7-21892426-C-G
• gnomAD v4: 7-21892426-C-G
• MyVariant Identifiers: chr7:g.21932044C>G (hg19) ; chr7:g.21892426C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21892426C>G , CM000669.2:g.21892426C>G	GRCh38
NC_000007.13:g.21932044C>G , CM000669.1:g.21932044C>G	GRCh37
NC_000007.12:g.21898569C>G	NCBI36
NG_012886.2:g.354212C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12509C>G MANE Select	ENSP00000475939.1:p.Thr4170Ser
ENST00000328843.10:c.12530C>G	ENSP00000330671.7:p.Thr4177Ser
ENST00000409508.7:c.12509C>G	ENSP00000475939.1:p.Thr4170Ser
ENST00000620169.4:c.12530C>G	ENSP00000481693.1:p.Thr4177Ser
NM_001277115.1:c.12509C>G	NP_001264044.1:p.Thr4170Ser
NM_001277115.2:c.12509C>G MANE Select	NP_001264044.1:p.Thr4170Ser