Canonical Allele Identifier: CA155077595

Gene: DNAH11

Linked Data

• dbSNP Id: rs371054541
• gnomAD v2: 7-21745175-A-C
• gnomAD v3: 7-21705557-A-C
• gnomAD v4: 7-21705557-A-C
• MyVariant Identifiers: chr7:g.21745175A>C (hg19) ; chr7:g.21705557A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21705557A>C , CM000669.2:g.21705557A>C	GRCh38
NC_000007.13:g.21745175A>C , CM000669.1:g.21745175A>C	GRCh37
NC_000007.12:g.21711700A>C	NCBI36
NG_012886.2:g.167343A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409508.8:c.6546+20A>C MANE Select	ENSP00000475939.1:n.6546+20A>C
ENST00000328843.10:c.6567+20A>C	ENSP00000330671.7:n.6567+20A>C
ENST00000409508.7:c.6546+20A>C	ENSP00000475939.1:n.6546+20A>C
ENST00000620169.4:c.6567+20A>C	ENSP00000481693.1:n.6567+20A>C
NM_001277115.1:c.6546+20A>C	NP_001264044.1:n.6546+20A>C
NM_001277115.2:c.6546+20A>C MANE Select	NP_001264044.1:n.6546+20A>C