Canonical Allele Identifier: CA4179428
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 525223
ClinVar RCV Id: RCV000629272 RCV003329315
dbSNP Id: rs766050153
ExAC: 7:21639509 G / A
gnomAD v2: 7-21639509-G-A
gnomAD v3: 7-21599891-G-A
gnomAD v4: 7-21599891-G-A
COSMIC: COSM4596034 COSM4596035
MyVariant Identifiers: chr7:g.21639509G>A (hg19) chr7:g.21599891G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599891G>A , CM000669.2:g.21599891G>A GRCh38
NC_000007.13:g.21639509G>A , CM000669.1:g.21639509G>A GRCh37
NC_000007.12:g.21606034G>A NCBI36
NG_012886.2:g.61677G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2772G>A MANE Select ENSP00000475939.1:p.Met924Ile
ENST00000328843.10:c.2772G>A ENSP00000330671.7:p.Met924Ile
ENST00000409508.7:c.2772G>A ENSP00000475939.1:p.Met924Ile
ENST00000620169.4:c.2772G>A ENSP00000481693.1:p.Met924Ile
NM_001277115.1:c.2772G>A NP_001264044.1:p.Met924Ile
NM_001277115.2:c.2772G>A MANE Select NP_001264044.1:p.Met924Ile
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