Canonical Allele Identifier: CA4178718
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2893581
ClinVar RCV Id: RCV003650226
dbSNP Id: rs534397062
ExAC: 7:21598503 A / G
gnomAD v2: 7-21598503-A-G
gnomAD v3: 7-21558885-A-G
gnomAD v4: 7-21558885-A-G
MyVariant Identifiers: chr7:g.21598503A>G (hg19) chr7:g.21558885A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558885A>G , CM000669.2:g.21558885A>G GRCh38
NC_000007.13:g.21598503A>G , CM000669.1:g.21598503A>G GRCh37
NC_000007.12:g.21565028A>G NCBI36
NG_012886.2:g.20671A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.579A>G MANE Select ENSP00000475939.1:p.Glu193=
ENST00000328843.10:c.579A>G ENSP00000330671.7:p.Glu193=
ENST00000409508.7:c.579A>G ENSP00000475939.1:p.Glu193=
ENST00000620169.4:c.579A>G ENSP00000481693.1:p.Glu193=
NM_001277115.1:c.579A>G NP_001264044.1:p.Glu193=
NM_001277115.2:c.579A>G MANE Select NP_001264044.1:p.Glu193=
Search 100 bp 5'
Search 100 bp 3'