Canonical Allele Identifier: CA470996333
Gene: FGF8 HGNC NCBI

Linked Data

dbSNP Id: rs1239958679

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101774829G>A , CM000672.2:g.101774829G>A GRCh38
NC_000010.10:g.103534586G>A , CM000672.1:g.103534586G>A GRCh37
NC_000010.9:g.103524576G>A NCBI36
NG_007151.1:g.6242C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320185.7:c.240C>T MANE Select ENSP00000321797.2:p.Ile80=
ENST00000618991.5:c.-73C>T ENSP00000484420.1:n.-73C>T
ENST00000344255.8:c.207C>T ENSP00000340039.3:p.Ile69=
ENST00000320185.6:c.240C>T ENSP00000321797.2:p.Ile80=
ENST00000344255.7:c.207C>T ENSP00000340039.3:p.Ile69=
ENST00000346714.7:c.120C>T ENSP00000344306.3:p.Ile40=
ENST00000347978.2:c.153C>T ENSP00000321945.2:p.Ile51=
ENST00000469792.6:c.*204C>T ENSP00000473299.1:n.*204C>T
ENST00000485728.1:n.116C>T
ENST00000618991.4:c.-73C>T ENSP00000484420.1:n.-73C>T
NM_001206389.1:c.-73C>T NP_001193318.1:n.-73C>T
NM_006119.4:c.153C>T NP_006110.1:p.Ile51=
NM_033163.3:c.240C>T NP_149353.1:p.Ile80=
NM_033164.3:c.207C>T NP_149354.1:p.Ile69=
NM_033165.3:c.120C>T NP_149355.1:p.Ile40=
XM_011539509.1:c.162C>T XP_011537811.1:p.Ile54=
NM_006119.5:c.153C>T NP_006110.1:p.Ile51=
NM_033163.4:c.240C>T NP_149353.1:p.Ile80=
NM_033164.4:c.207C>T NP_149354.1:p.Ile69=
NM_033165.4:c.120C>T NP_149355.1:p.Ile40=
NM_001206389.2:c.-73C>T NP_001193318.1:n.-73C>T
NM_006119.6:c.153C>T NP_006110.1:p.Ile51=
NM_033163.5:c.240C>T MANE Select NP_149353.1:p.Ile80=
NM_033165.5:c.120C>T NP_149355.1:p.Ile40=