Canonical Allele Identifier: CA16606615
Gene: FGF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 392880
ClinVar RCV Id: RCV000419587
dbSNP Id: rs1057524676
MyVariant Identifiers: chr10:g.103534539A>T (hg19) chr10:g.101774782A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101774782A>T , CM000672.2:g.101774782A>T GRCh38
NC_000010.10:g.103534539A>T , CM000672.1:g.103534539A>T GRCh37
NC_000010.9:g.103524529A>T NCBI36
NG_007151.1:g.6289T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320185.7:c.287T>A MANE Select ENSP00000321797.2:p.Val96Asp
ENST00000618991.5:c.-26T>A ENSP00000484420.1:n.-26T>A
ENST00000344255.8:c.254T>A ENSP00000340039.3:p.Val85Asp
ENST00000320185.6:c.287T>A ENSP00000321797.2:p.Val96Asp
ENST00000344255.7:c.254T>A ENSP00000340039.3:p.Val85Asp
ENST00000346714.7:c.167T>A ENSP00000344306.3:p.Val56Asp
ENST00000347978.2:c.200T>A ENSP00000321945.2:p.Val67Asp
ENST00000469792.6:c.*251T>A ENSP00000473299.1:n.*251T>A
ENST00000485728.1:n.163T>A
ENST00000618991.4:c.-26T>A ENSP00000484420.1:n.-26T>A
NM_001206389.1:c.-26T>A NP_001193318.1:n.-26T>A
NM_006119.4:c.200T>A NP_006110.1:p.Val67Asp
NM_033163.3:c.287T>A NP_149353.1:p.Val96Asp
NM_033164.3:c.254T>A NP_149354.1:p.Val85Asp
NM_033165.3:c.167T>A NP_149355.1:p.Val56Asp
XM_011539509.1:c.209T>A XP_011537811.1:p.Val70Asp
NM_006119.5:c.200T>A NP_006110.1:p.Val67Asp
NM_033163.4:c.287T>A NP_149353.1:p.Val96Asp
NM_033164.4:c.254T>A NP_149354.1:p.Val85Asp
NM_033165.4:c.167T>A NP_149355.1:p.Val56Asp
NM_001206389.2:c.-26T>A NP_001193318.1:n.-26T>A
NM_006119.6:c.200T>A NP_006110.1:p.Val67Asp
NM_033163.5:c.287T>A MANE Select NP_149353.1:p.Val96Asp
NM_033165.5:c.167T>A NP_149355.1:p.Val56Asp
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