Canonical Allele Identifier: CA4182784

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257855
• ClinVar RCV Id: RCV000251723 ; RCV001159576 ; RCV002450771
• dbSNP Id: rs199627577
• ExAC: 7:21906099 C / G
• gnomAD v2: 7-21906099-C-G
• gnomAD v3: 7-21866481-C-G
• gnomAD v4: 7-21866481-C-G
• MyVariant Identifiers: chr7:g.21906099C>G (hg19) ; chr7:g.21866481C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21866481C>G , CM000669.2:g.21866481C>G	GRCh38
NC_000007.13:g.21906099C>G , CM000669.1:g.21906099C>G	GRCh37
NC_000007.12:g.21872624C>G	NCBI36
NG_012886.2:g.328267C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.11508C>G MANE Select	ENSP00000475939.1:p.Val3836=
ENST00000328843.10:c.11529C>G	ENSP00000330671.7:p.Val3843=
ENST00000409508.7:c.11508C>G	ENSP00000475939.1:p.Val3836=
ENST00000620169.4:c.11529C>G	ENSP00000481693.1:p.Val3843=
NM_001277115.1:c.11508C>G	NP_001264044.1:p.Val3836=
NM_001277115.2:c.11508C>G MANE Select	NP_001264044.1:p.Val3836=