Canonical Allele Identifier: CA182898

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 178729
• ClinVar RCV Id: RCV000155489 ; RCV000226025 ; RCV001706036 ; RCV003114304
• dbSNP Id: rs72657374
• ExAC: 7:21805215 G / A
• gnomAD v2: 7-21805215-G-A
• gnomAD v3: 7-21765597-G-A
• gnomAD v4: 7-21765597-G-A
• MyVariant Identifiers: chr7:g.21805215G>A (hg19) ; chr7:g.21765597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21765597G>A , CM000669.2:g.21765597G>A	GRCh38
NC_000007.13:g.21805215G>A , CM000669.1:g.21805215G>A	GRCh37
NC_000007.12:g.21771740G>A	NCBI36
NG_012886.2:g.227383G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.9102+8G>A MANE Select	ENSP00000475939.1:n.9102+8G>A
ENST00000328843.10:c.9123+8G>A	ENSP00000330671.7:n.9123+8G>A
ENST00000409508.7:c.9102+8G>A	ENSP00000475939.1:n.9102+8G>A
ENST00000620169.4:c.9123+8G>A	ENSP00000481693.1:n.9123+8G>A
NM_001277115.1:c.9102+8G>A	NP_001264044.1:n.9102+8G>A
NM_001277115.2:c.9102+8G>A MANE Select	NP_001264044.1:n.9102+8G>A