Canonical Allele Identifier: CA4180113
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2914426
ClinVar RCV Id: RCV003652914
dbSNP Id: rs749457758
ExAC: 7:21675612 A / G
gnomAD v2: 7-21675612-A-G
gnomAD v3: 7-21635994-A-G
gnomAD v4: 7-21635994-A-G
MyVariant Identifiers: chr7:g.21675612A>G (hg19) chr7:g.21635994A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21635994A>G , CM000669.2:g.21635994A>G GRCh38
NC_000007.13:g.21675612A>G , CM000669.1:g.21675612A>G GRCh37
NC_000007.12:g.21642137A>G NCBI36
NG_012886.2:g.97780A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4624A>G MANE Select ENSP00000475939.1:p.Thr1542Ala
ENST00000328843.10:c.4639A>G ENSP00000330671.7:p.Thr1547Ala
ENST00000409508.7:c.4624A>G ENSP00000475939.1:p.Thr1542Ala
ENST00000465593.1:n.650A>G
ENST00000620169.4:c.4639A>G ENSP00000481693.1:p.Thr1547Ala
NM_001277115.1:c.4624A>G NP_001264044.1:p.Thr1542Ala
NM_001277115.2:c.4624A>G MANE Select NP_001264044.1:p.Thr1542Ala
Search 100 bp 5'
Search 100 bp 3'