Canonical Allele Identifier: CA4181821

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 238939
• ClinVar RCV Id: RCV000228824 ; RCV000250385 ; RCV002227099
• dbSNP Id: rs72657372
• ExAC: 7:21805123 G / A
• gnomAD v2: 7-21805123-G-A
• gnomAD v3: 7-21765505-G-A
• gnomAD v4: 7-21765505-G-A
• MyVariant Identifiers: chr7:g.21805123G>A (hg19) ; chr7:g.21765505G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21765505G>A , CM000669.2:g.21765505G>A	GRCh38
NC_000007.13:g.21805123G>A , CM000669.1:g.21805123G>A	GRCh37
NC_000007.12:g.21771648G>A	NCBI36
NG_012886.2:g.227291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.9018G>A MANE Select	ENSP00000475939.1:p.Thr3006=
ENST00000328843.10:c.9039G>A	ENSP00000330671.7:p.Thr3013=
ENST00000409508.7:c.9018G>A	ENSP00000475939.1:p.Thr3006=
ENST00000620169.4:c.9039G>A	ENSP00000481693.1:p.Thr3013=
NM_001277115.1:c.9018G>A	NP_001264044.1:p.Thr3006=
NM_001277115.2:c.9018G>A MANE Select	NP_001264044.1:p.Thr3006=