Canonical Allele Identifier: CA4180014

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257895
• ClinVar RCV Id: RCV000246113 ; RCV002058018 ; RCV001675708
• dbSNP Id: rs113270736
• ExAC: 7:21658860 G / A
• gnomAD v2: 7-21658860-G-A
• gnomAD v3: 7-21619242-G-A
• gnomAD v4: 7-21619242-G-A
• MyVariant Identifiers: chr7:g.21658860G>A (hg19) ; chr7:g.21619242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21619242G>A , CM000669.2:g.21619242G>A	GRCh38
NC_000007.13:g.21658860G>A , CM000669.1:g.21658860G>A	GRCh37
NC_000007.12:g.21625385G>A	NCBI36
NG_012886.2:g.81028G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4377+20G>A MANE Select	ENSP00000475939.1:n.4377+20G>A
ENST00000328843.10:c.4392+20G>A	ENSP00000330671.7:n.4392+20G>A
ENST00000409508.7:c.4377+20G>A	ENSP00000475939.1:n.4377+20G>A
ENST00000465593.1:n.403+20G>A
ENST00000620169.4:c.4392+20G>A	ENSP00000481693.1:n.4392+20G>A
NM_001277115.1:c.4377+20G>A	NP_001264044.1:n.4377+20G>A
NM_001277115.2:c.4377+20G>A MANE Select	NP_001264044.1:n.4377+20G>A