Canonical Allele Identifier: CA4181913

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359666
• ClinVar RCV Id: RCV000265185
• dbSNP Id: rs769695221
• ExAC: 7:21813573 C / T
• gnomAD v2: 7-21813573-C-T
• gnomAD v3: 7-21773955-C-T
• gnomAD v4: 7-21773955-C-T
• COSMIC: COSM5426511 ; COSM5426512
• MyVariant Identifiers: chr7:g.21813573C>T (hg19) ; chr7:g.21773955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21773955C>T , CM000669.2:g.21773955C>T	GRCh38
NC_000007.13:g.21813573C>T , CM000669.1:g.21813573C>T	GRCh37
NC_000007.12:g.21780098C>T	NCBI36
NG_012886.2:g.235741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.9292C>T MANE Select	ENSP00000475939.1:p.Arg3098Cys
ENST00000328843.10:c.9313C>T	ENSP00000330671.7:p.Arg3105Cys
ENST00000409508.7:c.9292C>T	ENSP00000475939.1:p.Arg3098Cys
ENST00000620169.4:c.9313C>T	ENSP00000481693.1:p.Arg3105Cys
NM_001277115.1:c.9292C>T	NP_001264044.1:p.Arg3098Cys
NM_001277115.2:c.9292C>T MANE Select	NP_001264044.1:p.Arg3098Cys