Canonical Allele Identifier: CA5657601

Gene: FGF8

Linked Data

• dbSNP Id: rs143649717
• ExAC: 10:103531192 G / A
• gnomAD v2: 10-103531192-G-A
• gnomAD v3: 10-101771435-G-A
• gnomAD v4: 10-101771435-G-A
• MyVariant Identifiers: chr10:g.103531192G>A (hg19) ; chr10:g.101771435G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101771435G>A , CM000672.2:g.101771435G>A	GRCh38
NC_000010.10:g.103531192G>A , CM000672.1:g.103531192G>A	GRCh37
NC_000010.9:g.103521182G>A	NCBI36
NG_007151.1:g.9636C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.444+28C>T MANE Select	ENSP00000321797.2:n.444+28C>T
ENST00000618991.5:c.132+28C>T	ENSP00000484420.1:n.132+28C>T
ENST00000344255.8:c.411+28C>T	ENSP00000340039.3:n.411+28C>T
ENST00000320185.6:c.444+28C>T	ENSP00000321797.2:n.444+28C>T
ENST00000344255.7:c.411+28C>T	ENSP00000340039.3:n.411+28C>T
ENST00000346714.7:c.324+28C>T	ENSP00000344306.3:n.324+28C>T
ENST00000347978.2:c.357+28C>T	ENSP00000321945.2:n.357+28C>T
ENST00000469792.6:c.*408+28C>T	ENSP00000473299.1:n.*408+28C>T
ENST00000485728.1:n.320+28C>T
ENST00000618991.4:c.132+28C>T	ENSP00000484420.1:n.132+28C>T
NM_001206389.1:c.132+28C>T	NP_001193318.1:n.132+28C>T
NM_006119.4:c.357+28C>T	NP_006110.1:n.357+28C>T
NM_033163.3:c.444+28C>T	NP_149353.1:n.444+28C>T
NM_033164.3:c.411+28C>T	NP_149354.1:n.411+28C>T
NM_033165.3:c.324+28C>T	NP_149355.1:n.324+28C>T
XM_011539509.1:c.366+28C>T	XP_011537811.1:n.366+28C>T
XR_946251.1:n.278-62G>A
XR_946252.1:n.209-62G>A
XR_946253.1:n.207-62G>A
XR_946252.2:n.299-62G>A
XR_946253.2:n.297-62G>A
NM_006119.5:c.357+28C>T	NP_006110.1:n.357+28C>T
NM_033163.4:c.444+28C>T	NP_149353.1:n.444+28C>T
NM_033164.4:c.411+28C>T	NP_149354.1:n.411+28C>T
NM_033165.4:c.324+28C>T	NP_149355.1:n.324+28C>T
NM_001206389.2:c.132+28C>T	NP_001193318.1:n.132+28C>T
NM_006119.6:c.357+28C>T	NP_006110.1:n.357+28C>T
NM_033163.5:c.444+28C>T MANE Select	NP_149353.1:n.444+28C>T
NM_033165.5:c.324+28C>T	NP_149355.1:n.324+28C>T