Canonical Allele Identifier: CA4181881

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359665
• ClinVar RCV Id: RCV000357525
• dbSNP Id: rs551974653
• ExAC: 7:21813369 T / C
• gnomAD v2: 7-21813369-T-C
• gnomAD v3: 7-21773751-T-C
• gnomAD v4: 7-21773751-T-C
• MyVariant Identifiers: chr7:g.21813369T>C (hg19) ; chr7:g.21773751T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21773751T>C , CM000669.2:g.21773751T>C	GRCh38
NC_000007.13:g.21813369T>C , CM000669.1:g.21813369T>C	GRCh37
NC_000007.12:g.21779894T>C	NCBI36
NG_012886.2:g.235537T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.9103-15T>C MANE Select	ENSP00000475939.1:n.9103-15T>C
ENST00000328843.10:c.9124-15T>C	ENSP00000330671.7:n.9124-15T>C
ENST00000409508.7:c.9103-15T>C	ENSP00000475939.1:n.9103-15T>C
ENST00000620169.4:c.9124-15T>C	ENSP00000481693.1:n.9124-15T>C
NM_001277115.1:c.9103-15T>C	NP_001264044.1:n.9103-15T>C
NM_001277115.2:c.9103-15T>C MANE Select	NP_001264044.1:n.9103-15T>C