Canonical Allele Identifier: CA366940199
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1443109
ClinVar RCV Id: RCV001960432
dbSNP Id: rs1784428696
MyVariant Identifiers: chr7:g.21750223G>C (hg19) chr7:g.21710605G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21710605G>C , CM000669.2:g.21710605G>C GRCh38
NC_000007.13:g.21750223G>C , CM000669.1:g.21750223G>C GRCh37
NC_000007.12:g.21716748G>C NCBI36
NG_012886.2:g.172391G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.6736G>C MANE Select ENSP00000475939.1:p.Ala2246Pro
ENST00000328843.10:c.6757G>C ENSP00000330671.7:p.Ala2253Pro
ENST00000409508.7:c.6736G>C ENSP00000475939.1:p.Ala2246Pro
ENST00000620169.4:c.6757G>C ENSP00000481693.1:p.Ala2253Pro
NM_001277115.1:c.6736G>C NP_001264044.1:p.Ala2246Pro
NM_001277115.2:c.6736G>C MANE Select NP_001264044.1:p.Ala2246Pro
Search 100 bp 5'
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