Canonical Allele Identifier: CA377836509
Gene: FGF8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101774789C>G , CM000672.2:g.101774789C>G GRCh38
NC_000010.10:g.103534546C>G , CM000672.1:g.103534546C>G GRCh37
NC_000010.9:g.103524536C>G NCBI36
NG_007151.1:g.6282G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320185.7:c.280G>C MANE Select ENSP00000321797.2:p.Val94Leu
ENST00000618991.5:c.-33G>C ENSP00000484420.1:n.-33G>C
ENST00000344255.8:c.247G>C ENSP00000340039.3:p.Val83Leu
ENST00000320185.6:c.280G>C ENSP00000321797.2:p.Val94Leu
ENST00000344255.7:c.247G>C ENSP00000340039.3:p.Val83Leu
ENST00000346714.7:c.160G>C ENSP00000344306.3:p.Val54Leu
ENST00000347978.2:c.193G>C ENSP00000321945.2:p.Val65Leu
ENST00000469792.6:c.*244G>C ENSP00000473299.1:n.*244G>C
ENST00000485728.1:n.156G>C
ENST00000618991.4:c.-33G>C ENSP00000484420.1:n.-33G>C
NM_001206389.1:c.-33G>C NP_001193318.1:n.-33G>C
NM_006119.4:c.193G>C NP_006110.1:p.Val65Leu
NM_033163.3:c.280G>C NP_149353.1:p.Val94Leu
NM_033164.3:c.247G>C NP_149354.1:p.Val83Leu
NM_033165.3:c.160G>C NP_149355.1:p.Val54Leu
XM_011539509.1:c.202G>C XP_011537811.1:p.Val68Leu
NM_006119.5:c.193G>C NP_006110.1:p.Val65Leu
NM_033163.4:c.280G>C NP_149353.1:p.Val94Leu
NM_033164.4:c.247G>C NP_149354.1:p.Val83Leu
NM_033165.4:c.160G>C NP_149355.1:p.Val54Leu
NM_001206389.2:c.-33G>C NP_001193318.1:n.-33G>C
NM_006119.6:c.193G>C NP_006110.1:p.Val65Leu
NM_033163.5:c.280G>C MANE Select NP_149353.1:p.Val94Leu
NM_033165.5:c.160G>C NP_149355.1:p.Val54Leu