Canonical Allele Identifier: CA4180124
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1364210
ClinVar RCV Id: RCV001937400
dbSNP Id: rs752129504
ExAC: 7:21675669 G / A
gnomAD v2: 7-21675669-G-A
gnomAD v4: 7-21636051-G-A
MyVariant Identifiers: chr7:g.21675669G>A (hg19) chr7:g.21636051G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21636051G>A , CM000669.2:g.21636051G>A GRCh38
NC_000007.13:g.21675669G>A , CM000669.1:g.21675669G>A GRCh37
NC_000007.12:g.21642194G>A NCBI36
NG_012886.2:g.97837G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4681G>A MANE Select ENSP00000475939.1:p.Val1561Met
ENST00000328843.10:c.4696G>A ENSP00000330671.7:p.Val1566Met
ENST00000409508.7:c.4681G>A ENSP00000475939.1:p.Val1561Met
ENST00000465593.1:n.707G>A
ENST00000620169.4:c.4696G>A ENSP00000481693.1:p.Val1566Met
NM_001277115.1:c.4681G>A NP_001264044.1:p.Val1561Met
NM_001277115.2:c.4681G>A MANE Select NP_001264044.1:p.Val1561Met
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