Canonical Allele Identifier: CA377834269
Gene: FGF8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101771477T>C , CM000672.2:g.101771477T>C GRCh38
NC_000010.10:g.103531234T>C , CM000672.1:g.103531234T>C GRCh37
NC_000010.9:g.103521224T>C NCBI36
NG_007151.1:g.9594A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320185.7:c.430A>G MANE Select ENSP00000321797.2:p.Lys144Glu
ENST00000618991.5:c.118A>G ENSP00000484420.1:p.Lys40Glu
ENST00000344255.8:c.397A>G ENSP00000340039.3:p.Lys133Glu
ENST00000320185.6:c.430A>G ENSP00000321797.2:p.Lys144Glu
ENST00000344255.7:c.397A>G ENSP00000340039.3:p.Lys133Glu
ENST00000346714.7:c.310A>G ENSP00000344306.3:p.Lys104Glu
ENST00000347978.2:c.343A>G ENSP00000321945.2:p.Lys115Glu
ENST00000469792.6:c.*394A>G ENSP00000473299.1:n.*394A>G
ENST00000485728.1:n.306A>G
ENST00000618991.4:c.118A>G ENSP00000484420.1:p.Lys40Glu
NM_001206389.1:c.118A>G NP_001193318.1:p.Lys40Glu
NM_006119.4:c.343A>G NP_006110.1:p.Lys115Glu
NM_033163.3:c.430A>G NP_149353.1:p.Lys144Glu
NM_033164.3:c.397A>G NP_149354.1:p.Lys133Glu
NM_033165.3:c.310A>G NP_149355.1:p.Lys104Glu
XM_011539509.1:c.352A>G XP_011537811.1:p.Lys118Glu
XR_946251.1:n.278-20T>C
XR_946252.1:n.209-20T>C
XR_946253.1:n.207-20T>C
XR_946252.2:n.299-20T>C
XR_946253.2:n.297-20T>C
NM_006119.5:c.343A>G NP_006110.1:p.Lys115Glu
NM_033163.4:c.430A>G NP_149353.1:p.Lys144Glu
NM_033164.4:c.397A>G NP_149354.1:p.Lys133Glu
NM_033165.4:c.310A>G NP_149355.1:p.Lys104Glu
NM_001206389.2:c.118A>G NP_001193318.1:p.Lys40Glu
NM_006119.6:c.343A>G NP_006110.1:p.Lys115Glu
NM_033163.5:c.430A>G MANE Select NP_149353.1:p.Lys144Glu
NM_033165.5:c.310A>G NP_149355.1:p.Lys104Glu