Canonical Allele Identifier: CA366964219
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1805672
ClinVar RCV Id: RCV002472090 RCV003653639
dbSNP Id: rs1388130536
gnomAD v2: 7-21920495-T-C
gnomAD v4: 7-21880877-T-C
MyVariant Identifiers: chr7:g.21920495T>C (hg19) chr7:g.21880877T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880877T>C , CM000669.2:g.21880877T>C GRCh38
NC_000007.13:g.21920495T>C , CM000669.1:g.21920495T>C GRCh37
NC_000007.12:g.21887020T>C NCBI36
NG_012886.2:g.342663T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12371T>C MANE Select ENSP00000475939.1:p.Leu4124Ser
ENST00000328843.10:c.12392T>C ENSP00000330671.7:p.Leu4131Ser
ENST00000409508.7:c.12371T>C ENSP00000475939.1:p.Leu4124Ser
ENST00000620169.4:c.12392T>C ENSP00000481693.1:p.Leu4131Ser
NM_001277115.1:c.12371T>C NP_001264044.1:p.Leu4124Ser
NM_001277115.2:c.12371T>C MANE Select NP_001264044.1:p.Leu4124Ser
Search 100 bp 5'
Search 100 bp 3'