Canonical Allele Identifier: CA260614
Community Standard Title: NM_033163.5(FGF8):c.40C>A (p.His14Asn)
Gene: FGF8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101775769G>T , CM000672.2:g.101775769G>T GRCh38
NC_000010.10:g.103535526G>T , CM000672.1:g.103535526G>T GRCh37
NC_000010.9:g.103525516G>T NCBI36
NG_007151.1:g.5302C>A

Transcript Alleles

HGVS Amino-acid Change
NM_033163.5:c.40C>A MANE Select NP_149353.1:p.His14Asn
ENST00000320185.7:c.40C>A MANE Select ENSP00000321797.2:p.His14Asn
NM_001206389.1:c.-153C>A NP_001193318.1:n.-153C>A
NM_001206389.2:c.-153C>A NP_001193318.1:n.-153C>A
NM_006119.4:c.40C>A NP_006110.1:p.His14Asn
NM_006119.5:c.40C>A NP_006110.1:p.His14Asn
NM_006119.6:c.40C>A NP_006110.1:p.His14Asn
NM_033163.3:c.40C>A NP_149353.1:p.His14Asn
NM_033163.4:c.40C>A NP_149353.1:p.His14Asn
NM_033164.3:c.40C>A NP_149354.1:p.His14Asn
NM_033164.4:c.40C>A NP_149354.1:p.His14Asn
NM_033165.3:c.40C>A NP_149355.1:p.His14Asn
NM_033165.4:c.40C>A NP_149355.1:p.His14Asn
NM_033165.5:c.40C>A NP_149355.1:p.His14Asn
ENST00000320185.6:c.40C>A ENSP00000321797.2:p.His14Asn
ENST00000344255.7:c.40C>A ENSP00000340039.3:p.His14Asn
ENST00000344255.8:c.40C>A ENSP00000340039.3:p.His14Asn
ENST00000346714.7:c.40C>A ENSP00000344306.3:p.His14Asn
ENST00000347978.2:c.40C>A ENSP00000321945.2:p.His14Asn
ENST00000469792.6:c.40C>A ENSP00000473299.1:p.His14Asn
ENST00000485728.1:n.32+100C>A
ENST00000618991.4:c.-153C>A ENSP00000484420.1:n.-153C>A
ENST00000618991.5:c.-153C>A ENSP00000484420.1:n.-153C>A
XM_011539509.1:c.49C>A XP_011537811.1:p.His17Asn