Canonical Allele Identifier: CA366955119
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs753843919
gnomAD v2: 7-21788242-T-C
gnomAD v4: 7-21748624-T-C
MyVariant Identifiers: chr7:g.21788242T>C (hg19) chr7:g.21748624T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748624T>C , CM000669.2:g.21748624T>C GRCh38
NC_000007.13:g.21788242T>C , CM000669.1:g.21788242T>C GRCh37
NC_000007.12:g.21754767T>C NCBI36
NG_012886.2:g.210410T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8555T>C MANE Select ENSP00000475939.1:p.Leu2852Pro
ENST00000328843.10:c.8576T>C ENSP00000330671.7:p.Leu2859Pro
ENST00000409508.7:c.8555T>C ENSP00000475939.1:p.Leu2852Pro
ENST00000620169.4:c.8576T>C ENSP00000481693.1:p.Leu2859Pro
NM_001277115.1:c.8555T>C NP_001264044.1:p.Leu2852Pro
NM_001277115.2:c.8555T>C MANE Select NP_001264044.1:p.Leu2852Pro
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