Canonical Allele Identifier: CA179973

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 166998
• ClinVar RCV Id: RCV000153155 ; RCV000196489 ; RCV002466448 ; RCV001535047
• dbSNP Id: rs117064287
• ExAC: 7:21598564 A / G
• gnomAD v2: 7-21598564-A-G
• gnomAD v3: 7-21558946-A-G
• gnomAD v4: 7-21558946-A-G
• MyVariant Identifiers: chr7:g.21598564A>G (hg19) ; chr7:g.21558946A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21558946A>G , CM000669.2:g.21558946A>G	GRCh38
NC_000007.13:g.21598564A>G , CM000669.1:g.21598564A>G	GRCh37
NC_000007.12:g.21565089A>G	NCBI36
NG_012886.2:g.20732A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.640A>G MANE Select	ENSP00000475939.1:p.Ile214Val
ENST00000328843.10:c.640A>G	ENSP00000330671.7:p.Ile214Val
ENST00000409508.7:c.640A>G	ENSP00000475939.1:p.Ile214Val
ENST00000620169.4:c.640A>G	ENSP00000481693.1:p.Ile214Val
NM_001277115.1:c.640A>G	NP_001264044.1:p.Ile214Val
NM_001277115.2:c.640A>G MANE Select	NP_001264044.1:p.Ile214Val