Canonical Allele Identifier: CA4181894

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 410880
• ClinVar RCV Id: RCV000458967
• dbSNP Id: rs781116833
• ExAC: 7:21813457 A / C
• gnomAD v2: 7-21813457-A-C
• gnomAD v3: 7-21773839-A-C
• gnomAD v4: 7-21773839-A-C
• MyVariant Identifiers: chr7:g.21813457A>C (hg19) ; chr7:g.21773839A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21773839A>C , CM000669.2:g.21773839A>C	GRCh38
NC_000007.13:g.21813457A>C , CM000669.1:g.21813457A>C	GRCh37
NC_000007.12:g.21779982A>C	NCBI36
NG_012886.2:g.235625A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.9176A>C MANE Select	ENSP00000475939.1:p.Tyr3059Ser
ENST00000328843.10:c.9197A>C	ENSP00000330671.7:p.Tyr3066Ser
ENST00000409508.7:c.9176A>C	ENSP00000475939.1:p.Tyr3059Ser
ENST00000620169.4:c.9197A>C	ENSP00000481693.1:p.Tyr3066Ser
NM_001277115.1:c.9176A>C	NP_001264044.1:p.Tyr3059Ser
NM_001277115.2:c.9176A>C MANE Select	NP_001264044.1:p.Tyr3059Ser