Canonical Allele Identifier: CA349204

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 220425
• ClinVar RCV Id: RCV000205041 ; RCV001333063 ; RCV001559427
• dbSNP Id: rs188615176
• ExAC: 7:21765456 C / T
• gnomAD v2: 7-21765456-C-T
• gnomAD v3: 7-21725838-C-T
• gnomAD v4: 7-21725838-C-T
• MyVariant Identifiers: chr7:g.21765456C>T (hg19) ; chr7:g.21725838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21725838C>T , CM000669.2:g.21725838C>T	GRCh38
NC_000007.13:g.21765456C>T , CM000669.1:g.21765456C>T	GRCh37
NC_000007.12:g.21731981C>T	NCBI36
NG_012886.2:g.187624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.7294C>T MANE Select	ENSP00000475939.1:p.Arg2432Trp
ENST00000328843.10:c.7315C>T	ENSP00000330671.7:p.Arg2439Trp
ENST00000409508.7:c.7294C>T	ENSP00000475939.1:p.Arg2432Trp
ENST00000620169.4:c.7315C>T	ENSP00000481693.1:p.Arg2439Trp
NM_001277115.1:c.7294C>T	NP_001264044.1:p.Arg2432Trp
NM_001277115.2:c.7294C>T MANE Select	NP_001264044.1:p.Arg2432Trp