Canonical Allele Identifier: CA4179423
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs774552662
ExAC: 7:21639478 T / G
gnomAD v2: 7-21639478-T-G
gnomAD v3: 7-21599860-T-G
gnomAD v4: 7-21599860-T-G
MyVariant Identifiers: chr7:g.21639478T>G (hg19) chr7:g.21599860T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599860T>G , CM000669.2:g.21599860T>G GRCh38
NC_000007.13:g.21639478T>G , CM000669.1:g.21639478T>G GRCh37
NC_000007.12:g.21606003T>G NCBI36
NG_012886.2:g.61646T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2741T>G MANE Select ENSP00000475939.1:p.Ile914Ser
ENST00000328843.10:c.2741T>G ENSP00000330671.7:p.Ile914Ser
ENST00000409508.7:c.2741T>G ENSP00000475939.1:p.Ile914Ser
ENST00000620169.4:c.2741T>G ENSP00000481693.1:p.Ile914Ser
NM_001277115.1:c.2741T>G NP_001264044.1:p.Ile914Ser
NM_001277115.2:c.2741T>G MANE Select NP_001264044.1:p.Ile914Ser
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