Canonical Allele Identifier: CA4180111
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 238921
ClinVar RCV Id: RCV000232517
dbSNP Id: rs757013900
ExAC: 7:21675609 C / T
gnomAD v2: 7-21675609-C-T
gnomAD v3: 7-21635991-C-T
gnomAD v4: 7-21635991-C-T
MyVariant Identifiers: chr7:g.21675609C>T (hg19) chr7:g.21635991C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21635991C>T , CM000669.2:g.21635991C>T GRCh38
NC_000007.13:g.21675609C>T , CM000669.1:g.21675609C>T GRCh37
NC_000007.12:g.21642134C>T NCBI36
NG_012886.2:g.97777C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.4621C>T MANE Select ENSP00000475939.1:p.Arg1541Ter
ENST00000328843.10:c.4636C>T ENSP00000330671.7:p.Arg1546Ter
ENST00000409508.7:c.4621C>T ENSP00000475939.1:p.Arg1541Ter
ENST00000465593.1:n.647C>T
ENST00000620169.4:c.4636C>T ENSP00000481693.1:p.Arg1546Ter
NM_001277115.1:c.4621C>T NP_001264044.1:p.Arg1541Ter
NM_001277115.2:c.4621C>T MANE Select NP_001264044.1:p.Arg1541Ter
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