Canonical Allele Identifier: CA4179483
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2723798
ClinVar RCV Id: RCV003538845
dbSNP Id: rs571896470
ExAC: 7:21639734 T / C
gnomAD v2: 7-21639734-T-C
gnomAD v3: 7-21600116-T-C
gnomAD v4: 7-21600116-T-C
MyVariant Identifiers: chr7:g.21639734T>C (hg19) chr7:g.21600116T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21600116T>C , CM000669.2:g.21600116T>C GRCh38
NC_000007.13:g.21639734T>C , CM000669.1:g.21639734T>C GRCh37
NC_000007.12:g.21606259T>C NCBI36
NG_012886.2:g.61902T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2997T>C MANE Select ENSP00000475939.1:p.Tyr999=
ENST00000328843.10:c.2997T>C ENSP00000330671.7:p.Tyr999=
ENST00000409508.7:c.2997T>C ENSP00000475939.1:p.Tyr999=
ENST00000620169.4:c.2997T>C ENSP00000481693.1:p.Tyr999=
NM_001277115.1:c.2997T>C NP_001264044.1:p.Tyr999=
NM_001277115.2:c.2997T>C MANE Select NP_001264044.1:p.Tyr999=
Search 100 bp 5'
Search 100 bp 3'