Canonical Allele Identifier: CA377834251
Gene: FGF8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101771471T>G , CM000672.2:g.101771471T>G GRCh38
NC_000010.10:g.103531228T>G , CM000672.1:g.103531228T>G GRCh37
NC_000010.9:g.103521218T>G NCBI36
NG_007151.1:g.9600A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320185.7:c.436A>C MANE Select ENSP00000321797.2:p.Ile146Leu
ENST00000618991.5:c.124A>C ENSP00000484420.1:p.Ile42Leu
ENST00000344255.8:c.403A>C ENSP00000340039.3:p.Ile135Leu
ENST00000320185.6:c.436A>C ENSP00000321797.2:p.Ile146Leu
ENST00000344255.7:c.403A>C ENSP00000340039.3:p.Ile135Leu
ENST00000346714.7:c.316A>C ENSP00000344306.3:p.Ile106Leu
ENST00000347978.2:c.349A>C ENSP00000321945.2:p.Ile117Leu
ENST00000469792.6:c.*400A>C ENSP00000473299.1:n.*400A>C
ENST00000485728.1:n.312A>C
ENST00000618991.4:c.124A>C ENSP00000484420.1:p.Ile42Leu
NM_001206389.1:c.124A>C NP_001193318.1:p.Ile42Leu
NM_006119.4:c.349A>C NP_006110.1:p.Ile117Leu
NM_033163.3:c.436A>C NP_149353.1:p.Ile146Leu
NM_033164.3:c.403A>C NP_149354.1:p.Ile135Leu
NM_033165.3:c.316A>C NP_149355.1:p.Ile106Leu
XM_011539509.1:c.358A>C XP_011537811.1:p.Ile120Leu
XR_946251.1:n.278-26T>G
XR_946252.1:n.209-26T>G
XR_946253.1:n.207-26T>G
XR_946252.2:n.299-26T>G
XR_946253.2:n.297-26T>G
NM_006119.5:c.349A>C NP_006110.1:p.Ile117Leu
NM_033163.4:c.436A>C NP_149353.1:p.Ile146Leu
NM_033164.4:c.403A>C NP_149354.1:p.Ile135Leu
NM_033165.4:c.316A>C NP_149355.1:p.Ile106Leu
NM_001206389.2:c.124A>C NP_001193318.1:p.Ile42Leu
NM_006119.6:c.349A>C NP_006110.1:p.Ile117Leu
NM_033163.5:c.436A>C MANE Select NP_149353.1:p.Ile146Leu
NM_033165.5:c.316A>C NP_149355.1:p.Ile106Leu