Canonical Allele Identifier: CA90414420
Community Standard Title: NM_004113.6(FGF12):c.14-47814C>T
Gene: FGF12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.192408352G>A , CM000665.2:g.192408352G>A GRCh38
NC_000003.11:g.192126141G>A , CM000665.1:g.192126141G>A GRCh37
NC_000003.10:g.193608835G>A NCBI36
NG_051966.1:g.324248C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004113.6:c.14-47814C>T MANE Select NP_004104.3:n.14-47814C>T
ENST00000445105.7:c.14-47814C>T MANE Select ENSP00000393686.1:n.14-47814C>T
NM_001377292.1:c.14-72888C>T NP_001364221.1:n.14-72888C>T
NM_001377293.1:c.-59-47814C>T NP_001364222.1:n.-59-47814C>T
NM_001377294.1:c.-60+1160C>T NP_001364223.1:n.-60+1160C>T
NM_004113.5:c.14-47814C>T NP_004104.3:n.14-47814C>T
NM_021032.4:c.-129C>T NP_066360.1:n.-129C>T
NM_021032.5:c.-129C>T NP_066360.1:n.-129C>T
ENST00000418610.1:c.14-47814C>T ENSP00000395517.1:n.14-47814C>T
ENST00000430714.5:c.14-72888C>T ENSP00000410125.1:n.14-72888C>T
ENST00000445105.6:c.14-47814C>T ENSP00000393686.1:n.14-47814C>T
ENST00000448795.5:c.-59-47814C>T ENSP00000412904.1:n.-59-47814C>T
ENST00000450716.5:c.14-47814C>T ENSP00000397635.1:n.14-47814C>T
ENST00000454309.6:c.-129C>T ENSP00000413496.2:n.-129C>T
ENST00000454309.7:c.-129C>T ENSP00000413496.2:n.-129C>T
ENST00000682572.1:n.202-47814C>T
ENST00000682819.1:n.233-47814C>T
ENST00000682819.2:n.267-47814C>T
ENST00000683451.1:c.14-47814C>T ENSP00000508366.1:n.14-47814C>T
ENST00000683451.2:c.14-47814C>T ENSP00000508366.1:n.14-47814C>T
ENST00000683935.1:c.14-47814C>T ENSP00000507098.1:n.14-47814C>T
ENST00000684282.1:c.-59-47814C>T ENSP00000507149.1:n.-59-47814C>T
ENST00000684728.1:c.-59-47814C>T ENSP00000506839.1:n.-59-47814C>T
XM_005247227.1:c.92-47814C>T XP_005247284.1:n.92-47814C>T
XM_005247227.2:c.92-47814C>T XP_005247284.1:n.92-47814C>T