Canonical Allele Identifier: CA246101691

Gene: SFSWAP

Linked Data

• dbSNP Id: rs894751305
• MyVariant Identifiers: chr12:g.132239354T>C (hg19) ; chr12:g.131754809T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131754809T>C , CM000674.2:g.131754809T>C	GRCh38
NC_000012.11:g.132239354T>C , CM000674.1:g.132239354T>C	GRCh37
NC_000012.10:g.130805307T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261674.9:c.1454+310T>C MANE Select	ENSP00000261674.4:n.1454+310T>C
ENST00000261674.8:c.1454+310T>C	ENSP00000261674.4:n.1454+310T>C
ENST00000535236.5:n.4788+310T>C
ENST00000537164.1:c.373+310T>C
ENST00000538548.5:c.*1041+310T>C	ENSP00000445832.1:n.*1041+310T>C
ENST00000541286.5:c.1454+310T>C	ENSP00000437738.1:n.1454+310T>C
NM_001261411.1:c.1454+310T>C	NP_001248340.1:n.1454+310T>C
NM_004592.3:c.1454+310T>C	NP_004583.2:n.1454+310T>C
XM_011538653.1:c.1454+310T>C	XP_011536955.1:n.1454+310T>C
XM_011538654.1:c.1076+310T>C	XP_011536956.1:n.1076+310T>C
XM_011538655.1:c.1454+310T>C	XP_011536957.1:n.1454+310T>C
XM_011538654.2:c.1076+310T>C	XP_011536956.1:n.1076+310T>C
XM_011538655.2:c.1454+310T>C	XP_011536957.1:n.1454+310T>C
XM_017019798.1:c.1454+310T>C	XP_016875287.1:n.1454+310T>C
XM_017019799.1:c.833+310T>C	XP_016875288.1:n.833+310T>C
XM_024449125.1:c.1076+310T>C	XP_024304893.1:n.1076+310T>C
XM_024449126.1:c.1076+310T>C	XP_024304894.1:n.1076+310T>C
NM_001261411.2:c.1454+310T>C	NP_001248340.1:n.1454+310T>C
NM_004592.4:c.1454+310T>C MANE Select	NP_004583.2:n.1454+310T>C