Canonical Allele Identifier: CA348176

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 220718
• ClinVar RCV Id: RCV000203881 ; RCV000251895 ; RCV000762446 ; RCV003615824
• dbSNP Id: rs62447794
• ExAC: 7:21675482 A / T
• gnomAD v2: 7-21675482-A-T
• gnomAD v3: 7-21635864-A-T
• gnomAD v4: 7-21635864-A-T
• MyVariant Identifiers: chr7:g.21675482A>T (hg19) ; chr7:g.21635864A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21635864A>T , CM000669.2:g.21635864A>T	GRCh38
NC_000007.13:g.21675482A>T , CM000669.1:g.21675482A>T	GRCh37
NC_000007.12:g.21642007A>T	NCBI36
NG_012886.2:g.97650A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4501-7A>T MANE Select	ENSP00000475939.1:n.4501-7A>T
ENST00000328843.10:c.4516-7A>T	ENSP00000330671.7:n.4516-7A>T
ENST00000409508.7:c.4501-7A>T	ENSP00000475939.1:n.4501-7A>T
ENST00000465593.1:n.527-7A>T
ENST00000620169.4:c.4516-7A>T	ENSP00000481693.1:n.4516-7A>T
NM_001277115.1:c.4501-7A>T	NP_001264044.1:n.4501-7A>T
NM_001277115.2:c.4501-7A>T MANE Select	NP_001264044.1:n.4501-7A>T