Canonical Allele Identifier: CA366955118
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1363623324
gnomAD v2: 7-21788241-C-T
gnomAD v3: 7-21748623-C-T
gnomAD v4: 7-21748623-C-T
MyVariant Identifiers: chr7:g.21788241C>T (hg19) chr7:g.21748623C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748623C>T , CM000669.2:g.21748623C>T GRCh38
NC_000007.13:g.21788241C>T , CM000669.1:g.21788241C>T GRCh37
NC_000007.12:g.21754766C>T NCBI36
NG_012886.2:g.210409C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8554C>T MANE Select ENSP00000475939.1:p.Leu2852Phe
ENST00000328843.10:c.8575C>T ENSP00000330671.7:p.Leu2859Phe
ENST00000409508.7:c.8554C>T ENSP00000475939.1:p.Leu2852Phe
ENST00000620169.4:c.8575C>T ENSP00000481693.1:p.Leu2859Phe
NM_001277115.1:c.8554C>T NP_001264044.1:p.Leu2852Phe
NM_001277115.2:c.8554C>T MANE Select NP_001264044.1:p.Leu2852Phe
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