Canonical Allele Identifier: CA2755867
Community Standard Title: NM_004113.6(FGF12):c.14-47441T>C
Gene: FGF12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.192407979A>G , CM000665.2:g.192407979A>G GRCh38
NC_000003.11:g.192125768A>G , CM000665.1:g.192125768A>G GRCh37
NC_000003.10:g.193608462A>G NCBI36
NG_051966.1:g.324621T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004113.6:c.14-47441T>C MANE Select NP_004104.3:n.14-47441T>C
ENST00000445105.7:c.14-47441T>C MANE Select ENSP00000393686.1:n.14-47441T>C
NM_001377292.1:c.14-72515T>C NP_001364221.1:n.14-72515T>C
NM_001377293.1:c.-59-47441T>C NP_001364222.1:n.-59-47441T>C
NM_001377294.1:c.-60+1533T>C NP_001364223.1:n.-60+1533T>C
NM_004113.5:c.14-47441T>C NP_004104.3:n.14-47441T>C
NM_021032.4:c.199+46T>C NP_066360.1:n.199+46T>C
NM_021032.5:c.199+46T>C NP_066360.1:n.199+46T>C
ENST00000418610.1:c.14-47441T>C ENSP00000395517.1:n.14-47441T>C
ENST00000430714.5:c.14-72515T>C ENSP00000410125.1:n.14-72515T>C
ENST00000445105.6:c.14-47441T>C ENSP00000393686.1:n.14-47441T>C
ENST00000448795.5:c.-59-47441T>C ENSP00000412904.1:n.-59-47441T>C
ENST00000450716.5:c.14-47441T>C ENSP00000397635.1:n.14-47441T>C
ENST00000454309.6:c.199+46T>C ENSP00000413496.2:n.199+46T>C
ENST00000454309.7:c.199+46T>C ENSP00000413496.2:n.199+46T>C
ENST00000682572.1:n.202-47441T>C
ENST00000682819.1:n.233-47441T>C
ENST00000682819.2:n.267-47441T>C
ENST00000683451.1:c.14-47441T>C ENSP00000508366.1:n.14-47441T>C
ENST00000683451.2:c.14-47441T>C ENSP00000508366.1:n.14-47441T>C
ENST00000683935.1:c.14-47441T>C ENSP00000507098.1:n.14-47441T>C
ENST00000684282.1:c.-59-47441T>C ENSP00000507149.1:n.-59-47441T>C
ENST00000684728.1:c.-59-47441T>C ENSP00000506839.1:n.-59-47441T>C
XM_005247227.1:c.92-47441T>C XP_005247284.1:n.92-47441T>C
XM_005247227.2:c.92-47441T>C XP_005247284.1:n.92-47441T>C