Canonical Allele Identifier: CA4181528

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 238933
• ClinVar RCV Id: RCV000227925 ; RCV000251345 ; RCV001711629
• dbSNP Id: rs74667361
• ExAC: 7:21784167 T / C
• gnomAD v2: 7-21784167-T-C
• gnomAD v3: 7-21744549-T-C
• gnomAD v4: 7-21744549-T-C
• MyVariant Identifiers: chr7:g.21784167T>C (hg19) ; chr7:g.21744549T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21744549T>C , CM000669.2:g.21744549T>C	GRCh38
NC_000007.13:g.21784167T>C , CM000669.1:g.21784167T>C	GRCh37
NC_000007.12:g.21750692T>C	NCBI36
NG_012886.2:g.206335T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409508.8:c.8266T>C MANE Select	ENSP00000475939.1:p.Cys2756Arg
ENST00000328843.10:c.8287T>C	ENSP00000330671.7:p.Cys2763Arg
ENST00000409508.7:c.8266T>C	ENSP00000475939.1:p.Cys2756Arg
ENST00000605912.1:c.475-321T>C	ENSP00000476068.1:n.475-321T>C
ENST00000620169.4:c.8287T>C	ENSP00000481693.1:p.Cys2763Arg
NM_001277115.1:c.8266T>C	NP_001264044.1:p.Cys2756Arg
NM_001277115.2:c.8266T>C MANE Select	NP_001264044.1:p.Cys2756Arg