Canonical Allele Identifier: CA16612170

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 410879
• ClinVar RCV Id: RCV000477052 ; RCV002470864
• dbSNP Id: rs375008007
• gnomAD v2: 7-21745123-G-C
• gnomAD v3: 7-21705505-G-C
• gnomAD v4: 7-21705505-G-C
• MyVariant Identifiers: chr7:g.21745123G>C (hg19) ; chr7:g.21705505G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21705505G>C , CM000669.2:g.21705505G>C	GRCh38
NC_000007.13:g.21745123G>C , CM000669.1:g.21745123G>C	GRCh37
NC_000007.12:g.21711648G>C	NCBI36
NG_012886.2:g.167291G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6514G>C MANE Select	ENSP00000475939.1:p.Val2172Leu
ENST00000328843.10:c.6535G>C	ENSP00000330671.7:p.Val2179Leu
ENST00000409508.7:c.6514G>C	ENSP00000475939.1:p.Val2172Leu
ENST00000620169.4:c.6535G>C	ENSP00000481693.1:p.Val2179Leu
NM_001277115.1:c.6514G>C	NP_001264044.1:p.Val2172Leu
NM_001277115.2:c.6514G>C MANE Select	NP_001264044.1:p.Val2172Leu