Canonical Allele Identifier: CA377834253
Gene: FGF8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101771473A>C , CM000672.2:g.101771473A>C GRCh38
NC_000010.10:g.103531230A>C , CM000672.1:g.103531230A>C GRCh37
NC_000010.9:g.103521220A>C NCBI36
NG_007151.1:g.9598T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320185.7:c.434T>G MANE Select ENSP00000321797.2:p.Leu145Arg
ENST00000618991.5:c.122T>G ENSP00000484420.1:p.Leu41Arg
ENST00000344255.8:c.401T>G ENSP00000340039.3:p.Leu134Arg
ENST00000320185.6:c.434T>G ENSP00000321797.2:p.Leu145Arg
ENST00000344255.7:c.401T>G ENSP00000340039.3:p.Leu134Arg
ENST00000346714.7:c.314T>G ENSP00000344306.3:p.Leu105Arg
ENST00000347978.2:c.347T>G ENSP00000321945.2:p.Leu116Arg
ENST00000469792.6:c.*398T>G ENSP00000473299.1:n.*398T>G
ENST00000485728.1:n.310T>G
ENST00000618991.4:c.122T>G ENSP00000484420.1:p.Leu41Arg
NM_001206389.1:c.122T>G NP_001193318.1:p.Leu41Arg
NM_006119.4:c.347T>G NP_006110.1:p.Leu116Arg
NM_033163.3:c.434T>G NP_149353.1:p.Leu145Arg
NM_033164.3:c.401T>G NP_149354.1:p.Leu134Arg
NM_033165.3:c.314T>G NP_149355.1:p.Leu105Arg
XM_011539509.1:c.356T>G XP_011537811.1:p.Leu119Arg
XR_946251.1:n.278-24A>C
XR_946252.1:n.209-24A>C
XR_946253.1:n.207-24A>C
XR_946252.2:n.299-24A>C
XR_946253.2:n.297-24A>C
NM_006119.5:c.347T>G NP_006110.1:p.Leu116Arg
NM_033163.4:c.434T>G NP_149353.1:p.Leu145Arg
NM_033164.4:c.401T>G NP_149354.1:p.Leu134Arg
NM_033165.4:c.314T>G NP_149355.1:p.Leu105Arg
NM_001206389.2:c.122T>G NP_001193318.1:p.Leu41Arg
NM_006119.6:c.347T>G NP_006110.1:p.Leu116Arg
NM_033163.5:c.434T>G MANE Select NP_149353.1:p.Leu145Arg
NM_033165.5:c.314T>G NP_149355.1:p.Leu105Arg