Canonical Allele Identifier: CA4180902

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359642
• ClinVar RCV Id: RCV000357603
• dbSNP Id: rs200894470
• ExAC: 7:21747364 G / A
• gnomAD v2: 7-21747364-G-A
• gnomAD v3: 7-21707746-G-A
• gnomAD v4: 7-21707746-G-A
• MyVariant Identifiers: chr7:g.21747364G>A (hg19) ; chr7:g.21707746G>A (hg38)
• PubMed: PMID:25363760

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21707746G>A , CM000669.2:g.21707746G>A	GRCh38
NC_000007.13:g.21747364G>A , CM000669.1:g.21747364G>A	GRCh37
NC_000007.12:g.21713889G>A	NCBI36
NG_012886.2:g.169532G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6594G>A MANE Select	ENSP00000475939.1:p.Pro2198=
ENST00000328843.10:c.6615G>A	ENSP00000330671.7:p.Pro2205=
ENST00000409508.7:c.6594G>A	ENSP00000475939.1:p.Pro2198=
ENST00000620169.4:c.6615G>A	ENSP00000481693.1:p.Pro2205=
NM_001277115.1:c.6594G>A	NP_001264044.1:p.Pro2198=
NM_001277115.2:c.6594G>A MANE Select	NP_001264044.1:p.Pro2198=