Canonical Allele Identifier: CA377838462

Gene: FGF8

Linked Data

• ClinVar Variation Id: 1722901
• ClinVar RCV Id: RCV002306008
• MyVariant Identifiers: chr10:g.103534966G>C (hg19) ; chr10:g.101775209G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101775209G>C , CM000672.2:g.101775209G>C	GRCh38
NC_000010.10:g.103534966G>C , CM000672.1:g.103534966G>C	GRCh37
NC_000010.9:g.103524956G>C	NCBI36
NG_007151.1:g.5862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.77C>G MANE Select	ENSP00000321797.2:p.Pro26Arg
ENST00000618991.5:c.-123-330C>G	ENSP00000484420.1:n.-123-330C>G
ENST00000344255.8:c.77C>G	ENSP00000340039.3:p.Pro26Arg
ENST00000320185.6:c.77C>G	ENSP00000321797.2:p.Pro26Arg
ENST00000344255.7:c.77C>G	ENSP00000340039.3:p.Pro26Arg
ENST00000346714.7:c.70-330C>G	ENSP00000344306.3:n.70-330C>G
ENST00000347978.2:c.70-297C>G	ENSP00000321945.2:n.70-297C>G
ENST00000469792.6:c.*154-330C>G	ENSP00000473299.1:n.*154-330C>G
ENST00000485728.1:n.33-297C>G
ENST00000618991.4:c.-123-330C>G	ENSP00000484420.1:n.-123-330C>G
NM_001206389.1:c.-123-330C>G	NP_001193318.1:n.-123-330C>G
NM_006119.4:c.70-297C>G	NP_006110.1:n.70-297C>G
NM_033163.3:c.77C>G	NP_149353.1:p.Pro26Arg
NM_033164.3:c.77C>G	NP_149354.1:p.Pro26Arg
NM_033165.3:c.70-330C>G	NP_149355.1:n.70-330C>G
XM_011539509.1:c.79-297C>G	XP_011537811.1:n.79-297C>G
NM_006119.5:c.70-297C>G	NP_006110.1:n.70-297C>G
NM_033163.4:c.77C>G	NP_149353.1:p.Pro26Arg
NM_033164.4:c.77C>G	NP_149354.1:p.Pro26Arg
NM_033165.4:c.70-330C>G	NP_149355.1:n.70-330C>G
NM_001206389.2:c.-123-330C>G	NP_001193318.1:n.-123-330C>G
NM_006119.6:c.70-297C>G	NP_006110.1:n.70-297C>G
NM_033163.5:c.77C>G MANE Select	NP_149353.1:p.Pro26Arg
NM_033165.5:c.70-330C>G	NP_149355.1:n.70-330C>G