Canonical Allele Identifier: CA366932430
Gene: DNAH11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.21598504G>T (hg19) chr7:g.21558886G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558886G>T , CM000669.2:g.21558886G>T GRCh38
NC_000007.13:g.21598504G>T , CM000669.1:g.21598504G>T GRCh37
NC_000007.12:g.21565029G>T NCBI36
NG_012886.2:g.20672G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.580G>T MANE Select ENSP00000475939.1:p.Val194Phe
ENST00000328843.10:c.580G>T ENSP00000330671.7:p.Val194Phe
ENST00000409508.7:c.580G>T ENSP00000475939.1:p.Val194Phe
ENST00000620169.4:c.580G>T ENSP00000481693.1:p.Val194Phe
NM_001277115.1:c.580G>T NP_001264044.1:p.Val194Phe
NM_001277115.2:c.580G>T MANE Select NP_001264044.1:p.Val194Phe
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