Canonical Allele Identifier: CA4178720
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2898139
ClinVar RCV Id: RCV003651344
dbSNP Id: rs762925566
ExAC: 7:21598518 G / A
gnomAD v2: 7-21598518-G-A
gnomAD v4: 7-21558900-G-A
MyVariant Identifiers: chr7:g.21598518G>A (hg19) chr7:g.21558900G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558900G>A , CM000669.2:g.21558900G>A GRCh38
NC_000007.13:g.21598518G>A , CM000669.1:g.21598518G>A GRCh37
NC_000007.12:g.21565043G>A NCBI36
NG_012886.2:g.20686G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.594G>A MANE Select ENSP00000475939.1:p.Lys198=
ENST00000328843.10:c.594G>A ENSP00000330671.7:p.Lys198=
ENST00000409508.7:c.594G>A ENSP00000475939.1:p.Lys198=
ENST00000620169.4:c.594G>A ENSP00000481693.1:p.Lys198=
NM_001277115.1:c.594G>A NP_001264044.1:p.Lys198=
NM_001277115.2:c.594G>A MANE Select NP_001264044.1:p.Lys198=
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