Canonical Allele Identifier: CA4180538

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 454688
• ClinVar RCV Id: RCV000540575 ; RCV001706661 ; RCV001528709
• dbSNP Id: rs72657333
• ExAC: 7:21726874 G / A
• gnomAD v2: 7-21726874-G-A
• gnomAD v3: 7-21687256-G-A
• gnomAD v4: 7-21687256-G-A
• MyVariant Identifiers: chr7:g.21726874G>A (hg19) ; chr7:g.21687256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21687256G>A , CM000669.2:g.21687256G>A	GRCh38
NC_000007.13:g.21726874G>A , CM000669.1:g.21726874G>A	GRCh37
NC_000007.12:g.21693399G>A	NCBI36
NG_012886.2:g.149042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.5778+1G>A MANE Select	ENSP00000475939.1:n.5778+1G>A
ENST00000328843.10:c.5799+1G>A	ENSP00000330671.7:n.5799+1G>A
ENST00000409508.7:c.5778+1G>A	ENSP00000475939.1:n.5778+1G>A
ENST00000620169.4:c.5799+1G>A	ENSP00000481693.1:n.5799+1G>A
NM_001277115.1:c.5778+1G>A	NP_001264044.1:n.5778+1G>A
NM_001277115.2:c.5778+1G>A MANE Select	NP_001264044.1:n.5778+1G>A