Canonical Allele Identifier: CA4178888

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257845
• ClinVar RCV Id: RCV000243349 ; RCV000391804
• dbSNP Id: rs201475447
• ExAC: 7:21603874 G / A
• gnomAD v2: 7-21603874-G-A
• gnomAD v3: 7-21564256-G-A
• gnomAD v4: 7-21564256-G-A
• MyVariant Identifiers: chr7:g.21603874G>A (hg19) ; chr7:g.21564256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21564256G>A , CM000669.2:g.21564256G>A	GRCh38
NC_000007.13:g.21603874G>A , CM000669.1:g.21603874G>A	GRCh37
NC_000007.12:g.21570399G>A	NCBI36
NG_012886.2:g.26042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.1053G>A MANE Select	ENSP00000475939.1:p.Glu351=
ENST00000328843.10:c.1053G>A	ENSP00000330671.7:p.Glu351=
ENST00000409508.7:c.1053G>A	ENSP00000475939.1:p.Glu351=
ENST00000496218.1:n.80+3086G>A
ENST00000620169.4:c.1053G>A	ENSP00000481693.1:p.Glu351=
NM_001277115.1:c.1053G>A	NP_001264044.1:p.Glu351=
XR_927090.1:n.564-4016C>T
XR_001745114.1:n.2794-4016C>T
NM_001277115.2:c.1053G>A MANE Select	NP_001264044.1:p.Glu351=