Canonical Allele Identifier: CA4179322

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257878
• ClinVar RCV Id: RCV000248365 ; RCV000341951 ; RCV003437039
• dbSNP Id: rs78653098
• ExAC: 7:21630908 G / A
• gnomAD v2: 7-21630908-G-A
• gnomAD v3: 7-21591290-G-A
• gnomAD v4: 7-21591290-G-A
• MyVariant Identifiers: chr7:g.21630908G>A (hg19) ; chr7:g.21591290G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21591290G>A , CM000669.2:g.21591290G>A	GRCh38
NC_000007.13:g.21630908G>A , CM000669.1:g.21630908G>A	GRCh37
NC_000007.12:g.21597433G>A	NCBI36
NG_012886.2:g.53076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.2380G>A MANE Select	ENSP00000475939.1:p.Glu794Lys
ENST00000328843.10:c.2380G>A	ENSP00000330671.7:p.Glu794Lys
ENST00000409508.7:c.2380G>A	ENSP00000475939.1:p.Glu794Lys
ENST00000620169.4:c.2380G>A	ENSP00000481693.1:p.Glu794Lys
NM_001277115.1:c.2380G>A	NP_001264044.1:p.Glu794Lys
NM_001277115.2:c.2380G>A MANE Select	NP_001264044.1:p.Glu794Lys