Canonical Allele Identifier: CA5657660

Gene: FGF8

Linked Data

• dbSNP Id: rs375117193
• ExAC: 10:103534579 A / G
• gnomAD v2: 10-103534579-A-G
• gnomAD v4: 10-101774822-A-G
• MyVariant Identifiers: chr10:g.103534579A>G (hg19) ; chr10:g.101774822A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101774822A>G , CM000672.2:g.101774822A>G	GRCh38
NC_000010.10:g.103534579A>G , CM000672.1:g.103534579A>G	GRCh37
NC_000010.9:g.103524569A>G	NCBI36
NG_007151.1:g.6249T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.247T>C MANE Select	ENSP00000321797.2:p.Tyr83His
ENST00000618991.5:c.-66T>C	ENSP00000484420.1:n.-66T>C
ENST00000344255.8:c.214T>C	ENSP00000340039.3:p.Tyr72His
ENST00000320185.6:c.247T>C	ENSP00000321797.2:p.Tyr83His
ENST00000344255.7:c.214T>C	ENSP00000340039.3:p.Tyr72His
ENST00000346714.7:c.127T>C	ENSP00000344306.3:p.Tyr43His
ENST00000347978.2:c.160T>C	ENSP00000321945.2:p.Tyr54His
ENST00000469792.6:c.*211T>C	ENSP00000473299.1:n.*211T>C
ENST00000485728.1:n.123T>C
ENST00000618991.4:c.-66T>C	ENSP00000484420.1:n.-66T>C
NM_001206389.1:c.-66T>C	NP_001193318.1:n.-66T>C
NM_006119.4:c.160T>C	NP_006110.1:p.Tyr54His
NM_033163.3:c.247T>C	NP_149353.1:p.Tyr83His
NM_033164.3:c.214T>C	NP_149354.1:p.Tyr72His
NM_033165.3:c.127T>C	NP_149355.1:p.Tyr43His
XM_011539509.1:c.169T>C	XP_011537811.1:p.Tyr57His
NM_006119.5:c.160T>C	NP_006110.1:p.Tyr54His
NM_033163.4:c.247T>C	NP_149353.1:p.Tyr83His
NM_033164.4:c.214T>C	NP_149354.1:p.Tyr72His
NM_033165.4:c.127T>C	NP_149355.1:p.Tyr43His
NM_001206389.2:c.-66T>C	NP_001193318.1:n.-66T>C
NM_006119.6:c.160T>C	NP_006110.1:p.Tyr54His
NM_033163.5:c.247T>C MANE Select	NP_149353.1:p.Tyr83His
NM_033165.5:c.127T>C	NP_149355.1:p.Tyr43His