Canonical Allele Identifier: CA4179453
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs763972586
ExAC: 7:21639582 A / T
gnomAD v2: 7-21639582-A-T
gnomAD v4: 7-21599964-A-T
COSMIC: COSM3880136 COSM3880137
MyVariant Identifiers: chr7:g.21639582A>T (hg19) chr7:g.21599964A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599964A>T , CM000669.2:g.21599964A>T GRCh38
NC_000007.13:g.21639582A>T , CM000669.1:g.21639582A>T GRCh37
NC_000007.12:g.21606107A>T NCBI36
NG_012886.2:g.61750A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.2845A>T MANE Select ENSP00000475939.1:p.Ile949Phe
ENST00000328843.10:c.2845A>T ENSP00000330671.7:p.Ile949Phe
ENST00000409508.7:c.2845A>T ENSP00000475939.1:p.Ile949Phe
ENST00000620169.4:c.2845A>T ENSP00000481693.1:p.Ile949Phe
NM_001277115.1:c.2845A>T NP_001264044.1:p.Ile949Phe
NM_001277115.2:c.2845A>T MANE Select NP_001264044.1:p.Ile949Phe
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