Canonical Allele Identifier: CA2708139827
Gene: FAT1 HGNC NCBI

Linked Data

dbSNP Id: rs2126400479

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186597832T>G , CM000666.2:g.186597832T>G GRCh38
NC_000004.11:g.187518986T>G , CM000666.1:g.187518986T>G GRCh37
NC_000004.10:g.187755980T>G NCBI36
NG_046994.1:g.134084A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000441802.7:c.12258-40A>C MANE Select ENSP00000406229.2:n.12258-40A>C
ENST00000441802.6:c.12258-40A>C ENSP00000406229.2:n.12258-40A>C
ENST00000507105.1:c.54-40A>C
ENST00000507662.1:n.157-40A>C
ENST00000512347.1:n.450-40A>C
ENST00000614102.4:c.12264-40A>C ENSP00000479573.1:n.12264-40A>C
NM_005245.3:c.12258-40A>C NP_005236.2:n.12258-40A>C
XM_005262834.2:c.12258-40A>C XP_005262891.1:n.12258-40A>C
XM_005262835.1:c.12258-40A>C XP_005262892.1:n.12258-40A>C
XM_006714139.2:c.12258-40A>C XP_006714202.1:n.12258-40A>C
XM_005262834.3:c.12258-40A>C XP_005262891.1:n.12258-40A>C
XM_005262835.2:c.12258-40A>C XP_005262892.1:n.12258-40A>C
XM_006714139.3:c.12258-40A>C XP_006714202.1:n.12258-40A>C
NM_005245.4:c.12258-40A>C MANE Select NP_005236.2:n.12258-40A>C