Canonical Allele Identifier: CA4181052

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 525569
• ClinVar RCV Id: RCV000629648 ; RCV001160316
• dbSNP Id: rs745645801
• ExAC: 7:21751478 C / T
• gnomAD v2: 7-21751478-C-T
• gnomAD v3: 7-21711860-C-T
• gnomAD v4: 7-21711860-C-T
• MyVariant Identifiers: chr7:g.21751478C>T (hg19) ; chr7:g.21751478_21751482delinsTGTGA (hg19) ; chr7:g.21711860C>T (hg38) ; chr7:g.21711860_21711864delinsTGTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21711860C>T , CM000669.2:g.21711860C>T	GRCh38
NC_000007.13:g.21751478C>T , CM000669.1:g.21751478C>T	GRCh37
NC_000007.12:g.21718003C>T	NCBI36
NG_012886.2:g.173646C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6983C>T MANE Select	ENSP00000475939.1:p.Pro2328Leu
ENST00000328843.10:c.7004C>T	ENSP00000330671.7:p.Pro2335Leu
ENST00000409508.7:c.6983C>T	ENSP00000475939.1:p.Pro2328Leu
ENST00000620169.4:c.7004C>T	ENSP00000481693.1:p.Pro2335Leu
NM_001277115.1:c.6983C>T	NP_001264044.1:p.Pro2328Leu
NM_001277115.2:c.6983C>T MANE Select	NP_001264044.1:p.Pro2328Leu