Canonical Allele Identifier: CA182891

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 178725
• ClinVar RCV Id: RCV000155485 ; RCV000274400 ; RCV001538163 ; RCV001657883
• dbSNP Id: rs10269582
• ExAC: 7:21640361 T / C
• gnomAD v2: 7-21640361-T-C
• gnomAD v3: 7-21600743-T-C
• gnomAD v4: 7-21600743-T-C
• MyVariant Identifiers: chr7:g.21640361T>C (hg19) ; chr7:g.21600743T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21600743T>C , CM000669.2:g.21600743T>C	GRCh38
NC_000007.13:g.21640361T>C , CM000669.1:g.21640361T>C	GRCh37
NC_000007.12:g.21606886T>C	NCBI36
NG_012886.2:g.62529T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.3068T>C MANE Select	ENSP00000475939.1:p.Val1023Ala
ENST00000328843.10:c.3068T>C	ENSP00000330671.7:p.Val1023Ala
ENST00000409508.7:c.3068T>C	ENSP00000475939.1:p.Val1023Ala
ENST00000620169.4:c.3068T>C	ENSP00000481693.1:p.Val1023Ala
NM_001277115.1:c.3068T>C	NP_001264044.1:p.Val1023Ala
NM_001277115.2:c.3068T>C MANE Select	NP_001264044.1:p.Val1023Ala