Canonical Allele Identifier: CA4181580

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 238934
• ClinVar RCV Id: RCV000230780 ; RCV000249481 ; RCV001706254
• dbSNP Id: rs147478795
• ExAC: 7:21784533 C / G
• gnomAD v2: 7-21784533-C-G
• gnomAD v3: 7-21744915-C-G
• gnomAD v4: 7-21744915-C-G
• MyVariant Identifiers: chr7:g.21784533C>G (hg19) ; chr7:g.21744915C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21744915C>G , CM000669.2:g.21744915C>G	GRCh38
NC_000007.13:g.21784533C>G , CM000669.1:g.21784533C>G	GRCh37
NC_000007.12:g.21751058C>G	NCBI36
NG_012886.2:g.206701C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409508.8:c.8362C>G MANE Select	ENSP00000475939.1:p.His2788Asp
ENST00000328843.10:c.8383C>G	ENSP00000330671.7:p.His2795Asp
ENST00000409508.7:c.8362C>G	ENSP00000475939.1:p.His2788Asp
ENST00000605912.1:c.520C>G	ENSP00000476068.1:p.His174Asp
ENST00000620169.4:c.8383C>G	ENSP00000481693.1:p.His2795Asp
NM_001277115.1:c.8362C>G	NP_001264044.1:p.His2788Asp
NM_001277115.2:c.8362C>G MANE Select	NP_001264044.1:p.His2788Asp