Canonical Allele Identifier: CA4180633

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 454691
• ClinVar RCV Id: RCV000544125 ; RCV000763173
• dbSNP Id: rs373844629
• ExAC: 7:21730462 C / T
• gnomAD v2: 7-21730462-C-T
• gnomAD v3: 7-21690844-C-T
• gnomAD v4: 7-21690844-C-T
• COSMIC: COSM274821
• MyVariant Identifiers: chr7:g.21730462C>T (hg19) ; chr7:g.21690844C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21690844C>T , CM000669.2:g.21690844C>T	GRCh38
NC_000007.13:g.21730462C>T , CM000669.1:g.21730462C>T	GRCh37
NC_000007.12:g.21696987C>T	NCBI36
NG_012886.2:g.152630C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6004C>T MANE Select	ENSP00000475939.1:p.Arg2002Ter
ENST00000328843.10:c.6025C>T	ENSP00000330671.7:p.Arg2009Ter
ENST00000409508.7:c.6004C>T	ENSP00000475939.1:p.Arg2002Ter
ENST00000620169.4:c.6025C>T	ENSP00000481693.1:p.Arg2009Ter
NM_001277115.1:c.6004C>T	NP_001264044.1:p.Arg2002Ter
NM_001277115.2:c.6004C>T MANE Select	NP_001264044.1:p.Arg2002Ter