Canonical Allele Identifier: CA3072971
Community Standard Title: NM_001291303.3(FAT4):c.6729C>T (p.Ser2243=)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125415692C>T , CM000666.2:g.125415692C>T GRCh38
NC_000004.11:g.126336847C>T , CM000666.1:g.126336847C>T GRCh37
NC_000004.10:g.126556297C>T NCBI36
NG_033865.1:g.104281C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.6729C>T MANE Select NP_001278232.1:p.Ser2243=
ENST00000394329.9:c.6729C>T MANE Select ENSP00000377862.4:p.Ser2243=
NM_001291285.1:c.6729C>T NP_001278214.1:p.Ser2243=
NM_001291285.2:c.6729C>T NP_001278214.1:p.Ser2243=
NM_001291285.3:c.6729C>T NP_001278214.1:p.Ser2243=
NM_001291303.1:c.6729C>T NP_001278232.1:p.Ser2243=
NM_024582.4:c.6729C>T NP_078858.4:p.Ser2243=
NM_024582.5:c.6729C>T NP_078858.4:p.Ser2243=
NM_024582.6:c.6729C>T NP_078858.4:p.Ser2243=
ENST00000335110.5:c.1623C>T ENSP00000335169.5:p.Ser541=
ENST00000394329.7:c.6729C>T ENSP00000377862.3:p.Ser2243=
ENST00000674496.2:c.1500C>T ENSP00000501473.2:p.Ser500=
XM_011532236.1:c.6729C>T XP_011530538.1:p.Ser2243=
XM_011532236.2:c.6729C>T XP_011530538.1:p.Ser2243=
XM_011532237.1:c.1500C>T XP_011530539.1:p.Ser500=
XM_011532237.2:c.1500C>T XP_011530539.1:p.Ser500=