Canonical Allele Identifier: CA4182463

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257847
• ClinVar RCV Id: RCV000243689 ; RCV000528666 ; RCV001162361
• dbSNP Id: rs368833367
• ExAC: 7:21882155 C / T
• gnomAD v2: 7-21882155-C-T
• gnomAD v3: 7-21842537-C-T
• gnomAD v4: 7-21842537-C-T
• MyVariant Identifiers: chr7:g.21882155C>T (hg19) ; chr7:g.21842537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21842537C>T , CM000669.2:g.21842537C>T	GRCh38
NC_000007.13:g.21882155C>T , CM000669.1:g.21882155C>T	GRCh37
NC_000007.12:g.21848680C>T	NCBI36
NG_012886.2:g.304323C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.10692-7C>T MANE Select	ENSP00000475939.1:n.10692-7C>T
ENST00000328843.10:c.10713-7C>T	ENSP00000330671.7:n.10713-7C>T
ENST00000409508.7:c.10692-7C>T	ENSP00000475939.1:n.10692-7C>T
ENST00000620169.4:c.10713-7C>T	ENSP00000481693.1:n.10713-7C>T
NM_001277115.1:c.10692-7C>T	NP_001264044.1:n.10692-7C>T
NM_001277115.2:c.10692-7C>T MANE Select	NP_001264044.1:n.10692-7C>T