Canonical Allele Identifier: CA377838113
Gene: FGF8 HGNC NCBI

Linked Data

gnomAD v4: 10-101775166-G-C
MyVariant Identifiers: chr10:g.103534923G>C (hg19) chr10:g.101775166G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101775166G>C , CM000672.2:g.101775166G>C GRCh38
NC_000010.10:g.103534923G>C , CM000672.1:g.103534923G>C GRCh37
NC_000010.9:g.103524913G>C NCBI36
NG_007151.1:g.5905C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320185.7:c.120C>G MANE Select ENSP00000321797.2:p.Phe40Leu
ENST00000618991.5:c.-123-287C>G ENSP00000484420.1:n.-123-287C>G
ENST00000344255.8:c.120C>G ENSP00000340039.3:p.Phe40Leu
ENST00000320185.6:c.120C>G ENSP00000321797.2:p.Phe40Leu
ENST00000344255.7:c.120C>G ENSP00000340039.3:p.Phe40Leu
ENST00000346714.7:c.70-287C>G ENSP00000344306.3:n.70-287C>G
ENST00000347978.2:c.70-254C>G ENSP00000321945.2:n.70-254C>G
ENST00000469792.6:c.*154-287C>G ENSP00000473299.1:n.*154-287C>G
ENST00000485728.1:n.33-254C>G
ENST00000618991.4:c.-123-287C>G ENSP00000484420.1:n.-123-287C>G
NM_001206389.1:c.-123-287C>G NP_001193318.1:n.-123-287C>G
NM_006119.4:c.70-254C>G NP_006110.1:n.70-254C>G
NM_033163.3:c.120C>G NP_149353.1:p.Phe40Leu
NM_033164.3:c.120C>G NP_149354.1:p.Phe40Leu
NM_033165.3:c.70-287C>G NP_149355.1:n.70-287C>G
XM_011539509.1:c.79-254C>G XP_011537811.1:n.79-254C>G
NM_006119.5:c.70-254C>G NP_006110.1:n.70-254C>G
NM_033163.4:c.120C>G NP_149353.1:p.Phe40Leu
NM_033164.4:c.120C>G NP_149354.1:p.Phe40Leu
NM_033165.4:c.70-287C>G NP_149355.1:n.70-287C>G
NM_001206389.2:c.-123-287C>G NP_001193318.1:n.-123-287C>G
NM_006119.6:c.70-254C>G NP_006110.1:n.70-254C>G
NM_033163.5:c.120C>G MANE Select NP_149353.1:p.Phe40Leu
NM_033165.5:c.70-287C>G NP_149355.1:n.70-287C>G
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