Canonical Allele Identifier: CA90408938

Gene: FGF12

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.192360529A>C , CM000665.2:g.192360529A>C	GRCh38
NC_000003.11:g.192078318A>C , CM000665.1:g.192078318A>C	GRCh37
NC_000003.10:g.193561012A>C	NCBI36
NG_051966.1:g.372071T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454309.7:c.209T>G	ENSP00000413496.2:p.Leu70Arg
ENST00000682819.2:n.276T>G
ENST00000683451.2:c.23T>G	ENSP00000508366.1:p.Leu8Arg
ENST00000682572.1:n.211T>G
ENST00000682819.1:n.242T>G
ENST00000683451.1:c.23T>G	ENSP00000508366.1:p.Leu8Arg
ENST00000683935.1:c.23T>G	ENSP00000507098.1:p.Leu8Arg
ENST00000684282.1:c.-50T>G	ENSP00000507149.1:n.-50T>G
ENST00000684728.1:c.-50T>G	ENSP00000506839.1:n.-50T>G
ENST00000445105.7:c.23T>G MANE Select	ENSP00000393686.1:p.Leu8Arg
ENST00000418610.1:c.23T>G	ENSP00000395517.1:p.Leu8Arg
ENST00000430714.5:c.14-25065T>G	ENSP00000410125.1:n.14-25065T>G
ENST00000445105.6:c.23T>G	ENSP00000393686.1:p.Leu8Arg
ENST00000448795.5:c.-50T>G	ENSP00000412904.1:n.-50T>G
ENST00000450716.5:c.23T>G	ENSP00000397635.1:p.Leu8Arg
ENST00000454309.6:c.209T>G	ENSP00000413496.2:p.Leu70Arg
NM_004113.5:c.23T>G	NP_004104.3:p.Leu8Arg
NM_021032.4:c.209T>G	NP_066360.1:p.Leu70Arg
XM_005247227.1:c.101T>G	XP_005247284.1:p.Leu34Arg
XM_006713538.2:c.14T>G	XP_006713601.1:p.Leu5Arg
XM_006713539.2:c.-50T>G	XP_006713602.1:n.-50T>G
XM_005247227.2:c.101T>G	XP_005247284.1:p.Leu34Arg
XM_006713538.3:c.14T>G	XP_006713601.1:p.Leu5Arg
XM_024453395.1:c.-50T>G	XP_024309163.1:n.-50T>G
NM_001377292.1:c.14-25065T>G	NP_001364221.1:n.14-25065T>G
NM_001377293.1:c.-50T>G	NP_001364222.1:n.-50T>G
NM_001377294.1:c.-50T>G	NP_001364223.1:n.-50T>G
NM_004113.6:c.23T>G MANE Select	NP_004104.3:p.Leu8Arg
NM_021032.5:c.209T>G	NP_066360.1:p.Leu70Arg