Canonical Allele Identifier: CA437588986

Gene: FGF12

Linked Data

• dbSNP Id: rs1717350823
• gnomAD v3: 3-192335436-C-T
• gnomAD v4: 3-192335436-C-T
• MyVariant Identifiers: chr3:g.192053225C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.192335436C>T , CM000665.2:g.192335436C>T	GRCh38
NC_000003.11:g.192053225C>T , CM000665.1:g.192053225C>T	GRCh37
NC_000003.10:g.193535919C>T	NCBI36
NG_051966.1:g.397164G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000454309.7:c.339G>A	ENSP00000413496.2:p.Leu113=
ENST00000682819.2:n.406G>A
ENST00000683451.2:c.153G>A	ENSP00000508366.1:p.Leu51=
ENST00000682572.1:n.341G>A
ENST00000682819.1:n.372G>A
ENST00000683451.1:c.153G>A	ENSP00000508366.1:p.Leu51=
ENST00000683935.1:c.153G>A	ENSP00000507098.1:p.Leu51=
ENST00000684282.1:c.81G>A	ENSP00000507149.1:p.Leu27=
ENST00000684728.1:c.81G>A	ENSP00000506839.1:p.Leu27=
ENST00000445105.7:c.153G>A MANE Select	ENSP00000393686.1:p.Leu51=
ENST00000418610.1:c.153G>A	ENSP00000395517.1:p.Leu51=
ENST00000430714.5:c.42G>A	ENSP00000410125.1:p.Leu14=
ENST00000445105.6:c.153G>A	ENSP00000393686.1:p.Leu51=
ENST00000448795.5:c.81G>A	ENSP00000412904.1:p.Leu27=
ENST00000450716.5:c.153G>A	ENSP00000397635.1:p.Leu51=
ENST00000454309.6:c.339G>A	ENSP00000413496.2:p.Leu113=
NM_004113.5:c.153G>A	NP_004104.3:p.Leu51=
NM_021032.4:c.339G>A	NP_066360.1:p.Leu113=
XM_005247227.1:c.231G>A	XP_005247284.1:p.Leu77=
XM_006713538.2:c.144G>A	XP_006713601.1:p.Leu48=
XM_006713539.2:c.81G>A	XP_006713602.1:p.Leu27=
XM_005247227.2:c.231G>A	XP_005247284.1:p.Leu77=
XM_006713538.3:c.144G>A	XP_006713601.1:p.Leu48=
XM_024453395.1:c.81G>A	XP_024309163.1:p.Leu27=
NM_001377292.1:c.42G>A	NP_001364221.1:p.Leu14=
NM_001377293.1:c.81G>A	NP_001364222.1:p.Leu27=
NM_001377294.1:c.81G>A	NP_001364223.1:p.Leu27=
NM_004113.6:c.153G>A MANE Select	NP_004104.3:p.Leu51=
NM_021032.5:c.339G>A	NP_066360.1:p.Leu113=