Canonical Allele Identifier: CA4179063

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 410830
• ClinVar RCV Id: RCV000463456 ; RCV003319359
• dbSNP Id: rs545970834
• ExAC: 7:21621629 C / G
• gnomAD v2: 7-21621629-C-G
• gnomAD v3: 7-21582011-C-G
• gnomAD v4: 7-21582011-C-G
• MyVariant Identifiers: chr7:g.21621629C>G (hg19) ; chr7:g.21582011C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21582011C>G , CM000669.2:g.21582011C>G	GRCh38
NC_000007.13:g.21621629C>G , CM000669.1:g.21621629C>G	GRCh37
NC_000007.12:g.21588154C>G	NCBI36
NG_012886.2:g.43797C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.1700C>G MANE Select	ENSP00000475939.1:p.Ala567Gly
ENST00000328843.10:c.1700C>G	ENSP00000330671.7:p.Ala567Gly
ENST00000409508.7:c.1700C>G	ENSP00000475939.1:p.Ala567Gly
ENST00000620169.4:c.1700C>G	ENSP00000481693.1:p.Ala567Gly
NM_001277115.1:c.1700C>G	NP_001264044.1:p.Ala567Gly
NM_001277115.2:c.1700C>G MANE Select	NP_001264044.1:p.Ala567Gly