Canonical Allele Identifier: CA212182696

Gene: FGF8

Linked Data

• dbSNP Id: rs111621416
• gnomAD v2: 10-103534357-G-A
• gnomAD v3: 10-101774600-G-A
• gnomAD v4: 10-101774600-G-A
• MyVariant Identifiers: chr10:g.103534357G>A (hg19) ; chr10:g.101774600G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101774600G>A , CM000672.2:g.101774600G>A	GRCh38
NC_000010.10:g.103534357G>A , CM000672.1:g.103534357G>A	GRCh37
NC_000010.9:g.103524347G>A	NCBI36
NG_007151.1:g.6471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.337+132C>T MANE Select	ENSP00000321797.2:n.337+132C>T
ENST00000618991.5:c.25+132C>T	ENSP00000484420.1:n.25+132C>T
ENST00000344255.8:c.304+132C>T	ENSP00000340039.3:n.304+132C>T
ENST00000320185.6:c.337+132C>T	ENSP00000321797.2:n.337+132C>T
ENST00000344255.7:c.304+132C>T	ENSP00000340039.3:n.304+132C>T
ENST00000346714.7:c.217+132C>T	ENSP00000344306.3:n.217+132C>T
ENST00000347978.2:c.250+132C>T	ENSP00000321945.2:n.250+132C>T
ENST00000469792.6:c.*301+132C>T	ENSP00000473299.1:n.*301+132C>T
ENST00000485728.1:n.213+132C>T
ENST00000618991.4:c.25+132C>T	ENSP00000484420.1:n.25+132C>T
NM_001206389.1:c.25+132C>T	NP_001193318.1:n.25+132C>T
NM_006119.4:c.250+132C>T	NP_006110.1:n.250+132C>T
NM_033163.3:c.337+132C>T	NP_149353.1:n.337+132C>T
NM_033164.3:c.304+132C>T	NP_149354.1:n.304+132C>T
NM_033165.3:c.217+132C>T	NP_149355.1:n.217+132C>T
XM_011539509.1:c.259+132C>T	XP_011537811.1:n.259+132C>T
NM_006119.5:c.250+132C>T	NP_006110.1:n.250+132C>T
NM_033163.4:c.337+132C>T	NP_149353.1:n.337+132C>T
NM_033164.4:c.304+132C>T	NP_149354.1:n.304+132C>T
NM_033165.4:c.217+132C>T	NP_149355.1:n.217+132C>T
NM_001206389.2:c.25+132C>T	NP_001193318.1:n.25+132C>T
NM_006119.6:c.250+132C>T	NP_006110.1:n.250+132C>T
NM_033163.5:c.337+132C>T MANE Select	NP_149353.1:n.337+132C>T
NM_033165.5:c.217+132C>T	NP_149355.1:n.217+132C>T