Canonical Allele Identifier: CA4183058

Gene: DNAH11

Linked Data

• dbSNP Id: rs758956450
• ExAC: 7:21920541 C / G
• gnomAD v2: 7-21920541-C-G
• gnomAD v4: 7-21880923-C-G
• MyVariant Identifiers: chr7:g.21920541C>G (hg19) ; chr7:g.21880923C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21880923C>G , CM000669.2:g.21880923C>G	GRCh38
NC_000007.13:g.21920541C>G , CM000669.1:g.21920541C>G	GRCh37
NC_000007.12:g.21887066C>G	NCBI36
NG_012886.2:g.342709C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12387+30C>G MANE Select	ENSP00000475939.1:n.12387+30C>G
ENST00000328843.10:c.12408+30C>G	ENSP00000330671.7:n.12408+30C>G
ENST00000409508.7:c.12387+30C>G	ENSP00000475939.1:n.12387+30C>G
ENST00000620169.4:c.12408+30C>G	ENSP00000481693.1:n.12408+30C>G
NM_001277115.1:c.12387+30C>G	NP_001264044.1:n.12387+30C>G
NM_001277115.2:c.12387+30C>G MANE Select	NP_001264044.1:n.12387+30C>G