Canonical Allele Identifier: CA2798036412

Gene: SFSWAP

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131754840C>T , CM000674.2:g.131754840C>T	GRCh38
NC_000012.11:g.132239385C>T , CM000674.1:g.132239385C>T	GRCh37
NC_000012.10:g.130805338C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261674.9:c.1454+341C>T MANE Select	ENSP00000261674.4:n.1454+341C>T
ENST00000261674.8:c.1454+341C>T	ENSP00000261674.4:n.1454+341C>T
ENST00000535236.5:n.4788+341C>T
ENST00000537164.1:c.373+341C>T
ENST00000538548.5:c.*1041+341C>T	ENSP00000445832.1:n.*1041+341C>T
ENST00000541286.5:c.1454+341C>T	ENSP00000437738.1:n.1454+341C>T
NM_001261411.1:c.1454+341C>T	NP_001248340.1:n.1454+341C>T
NM_004592.3:c.1454+341C>T	NP_004583.2:n.1454+341C>T
XM_011538653.1:c.1454+341C>T	XP_011536955.1:n.1454+341C>T
XM_011538654.1:c.1076+341C>T	XP_011536956.1:n.1076+341C>T
XM_011538655.1:c.1454+341C>T	XP_011536957.1:n.1454+341C>T
XM_011538654.2:c.1076+341C>T	XP_011536956.1:n.1076+341C>T
XM_011538655.2:c.1454+341C>T	XP_011536957.1:n.1454+341C>T
XM_017019798.1:c.1454+341C>T	XP_016875287.1:n.1454+341C>T
XM_017019799.1:c.833+341C>T	XP_016875288.1:n.833+341C>T
XM_024449125.1:c.1076+341C>T	XP_024304893.1:n.1076+341C>T
XM_024449126.1:c.1076+341C>T	XP_024304894.1:n.1076+341C>T
NM_001261411.2:c.1454+341C>T	NP_001248340.1:n.1454+341C>T
NM_004592.4:c.1454+341C>T MANE Select	NP_004583.2:n.1454+341C>T