Canonical Allele Identifier: CA377834256

Gene: FGF8

Linked Data

• gnomAD v4: 10-101771474-G-C
• MyVariant Identifiers: chr10:g.103531231G>C (hg19) ; chr10:g.101771474G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101771474G>C , CM000672.2:g.101771474G>C	GRCh38
NC_000010.10:g.103531231G>C , CM000672.1:g.103531231G>C	GRCh37
NC_000010.9:g.103521221G>C	NCBI36
NG_007151.1:g.9597C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.433C>G MANE Select	ENSP00000321797.2:p.Leu145Val
ENST00000618991.5:c.121C>G	ENSP00000484420.1:p.Leu41Val
ENST00000344255.8:c.400C>G	ENSP00000340039.3:p.Leu134Val
ENST00000320185.6:c.433C>G	ENSP00000321797.2:p.Leu145Val
ENST00000344255.7:c.400C>G	ENSP00000340039.3:p.Leu134Val
ENST00000346714.7:c.313C>G	ENSP00000344306.3:p.Leu105Val
ENST00000347978.2:c.346C>G	ENSP00000321945.2:p.Leu116Val
ENST00000469792.6:c.*397C>G	ENSP00000473299.1:n.*397C>G
ENST00000485728.1:n.309C>G
ENST00000618991.4:c.121C>G	ENSP00000484420.1:p.Leu41Val
NM_001206389.1:c.121C>G	NP_001193318.1:p.Leu41Val
NM_006119.4:c.346C>G	NP_006110.1:p.Leu116Val
NM_033163.3:c.433C>G	NP_149353.1:p.Leu145Val
NM_033164.3:c.400C>G	NP_149354.1:p.Leu134Val
NM_033165.3:c.313C>G	NP_149355.1:p.Leu105Val
XM_011539509.1:c.355C>G	XP_011537811.1:p.Leu119Val
XR_946251.1:n.278-23G>C
XR_946252.1:n.209-23G>C
XR_946253.1:n.207-23G>C
XR_946252.2:n.299-23G>C
XR_946253.2:n.297-23G>C
NM_006119.5:c.346C>G	NP_006110.1:p.Leu116Val
NM_033163.4:c.433C>G	NP_149353.1:p.Leu145Val
NM_033164.4:c.400C>G	NP_149354.1:p.Leu134Val
NM_033165.4:c.313C>G	NP_149355.1:p.Leu105Val
NM_001206389.2:c.121C>G	NP_001193318.1:p.Leu41Val
NM_006119.6:c.346C>G	NP_006110.1:p.Leu116Val
NM_033163.5:c.433C>G MANE Select	NP_149353.1:p.Leu145Val
NM_033165.5:c.313C>G	NP_149355.1:p.Leu105Val