Canonical Allele Identifier: CA4183378

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 410874
• ClinVar RCV Id: RCV000458237 ; RCV002475883
• dbSNP Id: rs372325290
• ExAC: 7:21939678 A / C
• gnomAD v2: 7-21939678-A-C
• gnomAD v3: 7-21900060-A-C
• gnomAD v4: 7-21900060-A-C
• MyVariant Identifiers: chr7:g.21939678A>C (hg19) ; chr7:g.21900060A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21900060A>C , CM000669.2:g.21900060A>C	GRCh38
NC_000007.13:g.21939678A>C , CM000669.1:g.21939678A>C	GRCh37
NC_000007.12:g.21906203A>C	NCBI36
NG_012886.2:g.361846A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.13243A>C MANE Select	ENSP00000475939.1:p.Lys4415Gln
ENST00000328843.10:c.13264A>C	ENSP00000330671.7:p.Lys4422Gln
ENST00000409508.7:c.13243A>C	ENSP00000475939.1:p.Lys4415Gln
ENST00000479878.1:n.614A>C
ENST00000620169.4:c.13264A>C	ENSP00000481693.1:p.Lys4422Gln
NM_001277115.1:c.13243A>C	NP_001264044.1:p.Lys4415Gln
NM_001277115.2:c.13243A>C MANE Select	NP_001264044.1:p.Lys4415Gln