Canonical Allele Identifier: CA4183210

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 227319
• ClinVar RCV Id: RCV000221830 ; RCV000349165 ; RCV003144164
• dbSNP Id: rs377388499
• ExAC: 7:21934389 G / A
• gnomAD v2: 7-21934389-G-A
• gnomAD v3: 7-21894771-G-A
• gnomAD v4: 7-21894771-G-A
• MyVariant Identifiers: chr7:g.21934389G>A (hg19) ; chr7:g.21894771G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21894771G>A , CM000669.2:g.21894771G>A	GRCh38
NC_000007.13:g.21934389G>A , CM000669.1:g.21934389G>A	GRCh37
NC_000007.12:g.21900914G>A	NCBI36
NG_012886.2:g.356557G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12899G>A MANE Select	ENSP00000475939.1:p.Arg4300His
ENST00000328843.10:c.12920G>A	ENSP00000330671.7:p.Arg4307His
ENST00000409508.7:c.12899G>A	ENSP00000475939.1:p.Arg4300His
ENST00000479878.1:n.192G>A
ENST00000620169.4:c.12920G>A	ENSP00000481693.1:p.Arg4307His
NM_001277115.1:c.12899G>A	NP_001264044.1:p.Arg4300His
NM_001277115.2:c.12899G>A MANE Select	NP_001264044.1:p.Arg4300His