Canonical Allele Identifier: CA349805

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 220474
• ClinVar RCV Id: RCV000205671 ; RCV000254484 ; RCV000762448
• dbSNP Id: rs62445328
• ExAC: 7:21784649 C / T
• gnomAD v2: 7-21784649-C-T
• gnomAD v3: 7-21745031-C-T
• gnomAD v4: 7-21745031-C-T
• MyVariant Identifiers: chr7:g.21784649C>T (hg19) ; chr7:g.21745031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21745031C>T , CM000669.2:g.21745031C>T	GRCh38
NC_000007.13:g.21784649C>T , CM000669.1:g.21784649C>T	GRCh37
NC_000007.12:g.21751174C>T	NCBI36
NG_012886.2:g.206817C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.8478C>T MANE Select	ENSP00000475939.1:p.His2826=
ENST00000328843.10:c.8499C>T	ENSP00000330671.7:p.His2833=
ENST00000409508.7:c.8478C>T	ENSP00000475939.1:p.His2826=
ENST00000620169.4:c.8499C>T	ENSP00000481693.1:p.His2833=
NM_001277115.1:c.8478C>T	NP_001264044.1:p.His2826=
NM_001277115.2:c.8478C>T MANE Select	NP_001264044.1:p.His2826=