Canonical Allele Identifier: CA16044214
Gene: DNAH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 375378
ClinVar RCV Id: RCV000416423
dbSNP Id: rs1057519439
MyVariant Identifiers: chr2:g.196651859A>G (hg19) chr2:g.195787135A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.195787135A>G , CM000664.2:g.195787135A>G GRCh38
NC_000002.11:g.196651859A>G , CM000664.1:g.196651859A>G GRCh37
NC_000002.10:g.196360104A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000312428.11:c.10753T>C MANE Select ENSP00000311273.6:p.Phe3585Leu
ENST00000312428.10:c.10753T>C ENSP00000311273.6:p.Phe3585Leu
ENST00000409063.5:c.202T>C ENSP00000386912.1:p.Phe68Leu
NM_018897.2:c.10753T>C NP_061720.2:p.Phe3585Leu
XM_011511487.1:c.10753T>C XP_011509789.1:p.Phe3585Leu
XM_011511488.1:c.10633T>C XP_011509790.1:p.Phe3545Leu
XM_011511489.1:c.10615T>C XP_011509791.1:p.Phe3539Leu
XM_011511490.1:c.10528T>C XP_011509792.1:p.Phe3510Leu
XM_011511496.1:c.6397T>C XP_011509798.1:p.Phe2133Leu
XM_011511497.1:c.5125T>C XP_011509799.1:p.Phe1709Leu
XM_011511488.3:c.10633T>C XP_011509790.1:p.Phe3545Leu
XM_011511489.2:c.10615T>C XP_011509791.1:p.Phe3539Leu
XM_011511490.3:c.10528T>C XP_011509792.1:p.Phe3510Leu
XM_011511497.2:c.5125T>C XP_011509799.1:p.Phe1709Leu
XM_017004504.2:c.10480T>C XP_016859993.1:p.Phe3494Leu
NM_018897.3:c.10753T>C MANE Select NP_061720.2:p.Phe3585Leu
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