Canonical Allele Identifier: CA175741

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 163117
• ClinVar RCV Id: RCV000150448 ; RCV000205997 ; RCV001705981 ; RCV003114294
• dbSNP Id: rs72657373
• ExAC: 7:21805202 A / G
• gnomAD v2: 7-21805202-A-G
• gnomAD v3: 7-21765584-A-G
• gnomAD v4: 7-21765584-A-G
• MyVariant Identifiers: chr7:g.21805202A>G (hg19) ; chr7:g.21765584A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21765584A>G , CM000669.2:g.21765584A>G	GRCh38
NC_000007.13:g.21805202A>G , CM000669.1:g.21805202A>G	GRCh37
NC_000007.12:g.21771727A>G	NCBI36
NG_012886.2:g.227370A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.9097A>G MANE Select	ENSP00000475939.1:p.Ile3033Val
ENST00000328843.10:c.9118A>G	ENSP00000330671.7:p.Ile3040Val
ENST00000409508.7:c.9097A>G	ENSP00000475939.1:p.Ile3033Val
ENST00000620169.4:c.9118A>G	ENSP00000481693.1:p.Ile3040Val
NM_001277115.1:c.9097A>G	NP_001264044.1:p.Ile3033Val
NM_001277115.2:c.9097A>G MANE Select	NP_001264044.1:p.Ile3033Val