Canonical Allele Identifier: CA4181226

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257928
• ClinVar RCV Id: RCV000254459 ; RCV002058024
• dbSNP Id: rs10247099
• ExAC: 7:21775239 A / G
• gnomAD v2: 7-21775239-A-G
• gnomAD v3: 7-21735621-A-G
• gnomAD v4: 7-21735621-A-G
• MyVariant Identifiers: chr7:g.21775239A>G (hg19) ; chr7:g.21735621A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21735621A>G , CM000669.2:g.21735621A>G	GRCh38
NC_000007.13:g.21775239A>G , CM000669.1:g.21775239A>G	GRCh37
NC_000007.12:g.21741764A>G	NCBI36
NG_012886.2:g.197407A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.7441-19A>G MANE Select	ENSP00000475939.1:n.7441-19A>G
ENST00000328843.10:c.7462-19A>G	ENSP00000330671.7:n.7462-19A>G
ENST00000409508.7:c.7441-19A>G	ENSP00000475939.1:n.7441-19A>G
ENST00000620169.4:c.7462-19A>G	ENSP00000481693.1:n.7462-19A>G
NM_001277115.1:c.7441-19A>G	NP_001264044.1:n.7441-19A>G
NM_001277115.2:c.7441-19A>G MANE Select	NP_001264044.1:n.7441-19A>G