Canonical Allele Identifier: CA470996014
Gene: FGF8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.103531229C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101771472C>G , CM000672.2:g.101771472C>G GRCh38
NC_000010.10:g.103531229C>G , CM000672.1:g.103531229C>G GRCh37
NC_000010.9:g.103521219C>G NCBI36
NG_007151.1:g.9599G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320185.7:c.435G>C MANE Select ENSP00000321797.2:p.Leu145=
ENST00000618991.5:c.123G>C ENSP00000484420.1:p.Leu41=
ENST00000344255.8:c.402G>C ENSP00000340039.3:p.Leu134=
ENST00000320185.6:c.435G>C ENSP00000321797.2:p.Leu145=
ENST00000344255.7:c.402G>C ENSP00000340039.3:p.Leu134=
ENST00000346714.7:c.315G>C ENSP00000344306.3:p.Leu105=
ENST00000347978.2:c.348G>C ENSP00000321945.2:p.Leu116=
ENST00000469792.6:c.*399G>C ENSP00000473299.1:n.*399G>C
ENST00000485728.1:n.311G>C
ENST00000618991.4:c.123G>C ENSP00000484420.1:p.Leu41=
NM_001206389.1:c.123G>C NP_001193318.1:p.Leu41=
NM_006119.4:c.348G>C NP_006110.1:p.Leu116=
NM_033163.3:c.435G>C NP_149353.1:p.Leu145=
NM_033164.3:c.402G>C NP_149354.1:p.Leu134=
NM_033165.3:c.315G>C NP_149355.1:p.Leu105=
XM_011539509.1:c.357G>C XP_011537811.1:p.Leu119=
XR_946251.1:n.278-25C>G
XR_946252.1:n.209-25C>G
XR_946253.1:n.207-25C>G
XR_946252.2:n.299-25C>G
XR_946253.2:n.297-25C>G
NM_006119.5:c.348G>C NP_006110.1:p.Leu116=
NM_033163.4:c.435G>C NP_149353.1:p.Leu145=
NM_033164.4:c.402G>C NP_149354.1:p.Leu134=
NM_033165.4:c.315G>C NP_149355.1:p.Leu105=
NM_001206389.2:c.123G>C NP_001193318.1:p.Leu41=
NM_006119.6:c.348G>C NP_006110.1:p.Leu116=
NM_033163.5:c.435G>C MANE Select NP_149353.1:p.Leu145=
NM_033165.5:c.315G>C NP_149355.1:p.Leu105=