Canonical Allele Identifier: CA470996064
Gene: FGF8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.103531280G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101771523G>A , CM000672.2:g.101771523G>A GRCh38
NC_000010.10:g.103531280G>A , CM000672.1:g.103531280G>A GRCh37
NC_000010.9:g.103521270G>A NCBI36
NG_007151.1:g.9548C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320185.7:c.384C>T MANE Select ENSP00000321797.2:p.Val128=
ENST00000618991.5:c.72C>T ENSP00000484420.1:p.Val24=
ENST00000344255.8:c.351C>T ENSP00000340039.3:p.Val117=
ENST00000320185.6:c.384C>T ENSP00000321797.2:p.Val128=
ENST00000344255.7:c.351C>T ENSP00000340039.3:p.Val117=
ENST00000346714.7:c.264C>T ENSP00000344306.3:p.Val88=
ENST00000347978.2:c.297C>T ENSP00000321945.2:p.Val99=
ENST00000469792.6:c.*348C>T ENSP00000473299.1:n.*348C>T
ENST00000485728.1:n.260C>T
ENST00000618991.4:c.72C>T ENSP00000484420.1:p.Val24=
NM_001206389.1:c.72C>T NP_001193318.1:p.Val24=
NM_006119.4:c.297C>T NP_006110.1:p.Val99=
NM_033163.3:c.384C>T NP_149353.1:p.Val128=
NM_033164.3:c.351C>T NP_149354.1:p.Val117=
NM_033165.3:c.264C>T NP_149355.1:p.Val88=
XM_011539509.1:c.306C>T XP_011537811.1:p.Val102=
XR_946251.1:n.304G>A
XR_946252.1:n.235G>A
XR_946253.1:n.233G>A
XR_946252.2:n.325G>A
XR_946253.2:n.323G>A
NM_006119.5:c.297C>T NP_006110.1:p.Val99=
NM_033163.4:c.384C>T NP_149353.1:p.Val128=
NM_033164.4:c.351C>T NP_149354.1:p.Val117=
NM_033165.4:c.264C>T NP_149355.1:p.Val88=
NM_001206389.2:c.72C>T NP_001193318.1:p.Val24=
NM_006119.6:c.297C>T NP_006110.1:p.Val99=
NM_033163.5:c.384C>T MANE Select NP_149353.1:p.Val128=
NM_033165.5:c.264C>T NP_149355.1:p.Val88=