Canonical Allele Identifier: CA155074067
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1274926
ClinVar RCV Id: RCV001679165
dbSNP Id: rs68042167
gnomAD v2: 7-21598254-T-C
gnomAD v3: 7-21558636-T-C
gnomAD v4: 7-21558636-T-C
MyVariant Identifiers: chr7:g.21598254T>C (hg19) chr7:g.21558636T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558636T>C , CM000669.2:g.21558636T>C GRCh38
NC_000007.13:g.21598254T>C , CM000669.1:g.21598254T>C GRCh37
NC_000007.12:g.21564779T>C NCBI36
NG_012886.2:g.20422T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.496-166T>C MANE Select ENSP00000475939.1:n.496-166T>C
ENST00000328843.10:c.496-166T>C ENSP00000330671.7:n.496-166T>C
ENST00000409508.7:c.496-166T>C ENSP00000475939.1:n.496-166T>C
ENST00000620169.4:c.496-166T>C ENSP00000481693.1:n.496-166T>C
NM_001277115.1:c.496-166T>C NP_001264044.1:n.496-166T>C
NM_001277115.2:c.496-166T>C MANE Select NP_001264044.1:n.496-166T>C
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