Canonical Allele Identifier: CA349508

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 220049
• ClinVar RCV Id: RCV000205350 ; RCV003437006
• dbSNP Id: rs368294823
• ExAC: 7:21627720 T / A
• gnomAD v2: 7-21627720-T-A
• gnomAD v3: 7-21588102-T-A
• gnomAD v4: 7-21588102-T-A
• MyVariant Identifiers: chr7:g.21627720T>A (hg19) ; chr7:g.21588102T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21588102T>A , CM000669.2:g.21588102T>A	GRCh38
NC_000007.13:g.21627720T>A , CM000669.1:g.21627720T>A	GRCh37
NC_000007.12:g.21594245T>A	NCBI36
NG_012886.2:g.49888T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.1749T>A MANE Select	ENSP00000475939.1:p.Val583=
ENST00000328843.10:c.1749T>A	ENSP00000330671.7:p.Val583=
ENST00000409508.7:c.1749T>A	ENSP00000475939.1:p.Val583=
ENST00000620169.4:c.1749T>A	ENSP00000481693.1:p.Val583=
NM_001277115.1:c.1749T>A	NP_001264044.1:p.Val583=
NM_001277115.2:c.1749T>A MANE Select	NP_001264044.1:p.Val583=