Canonical Allele Identifier: CA2574686970

Gene: SFXN4

Linked Data

• gnomAD v4: 10-119147775-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119147779del , CM000672.2:g.119147779del	GRCh38
NC_000010.10:g.120907291del , CM000672.1:g.120907291del	GRCh37
NC_000010.9:g.120897281del	NCBI36
NG_033895.1:g.22917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355697.7:c.817del MANE Select	ENSP00000347924.2:p.Arg273GlyfsTer15
ENST00000355697.6:c.817del	ENSP00000347924.2:p.Arg273GlyfsTer15
ENST00000369131.8:c.469del	ENSP00000358127.4:p.Arg157GlyfsTer15
ENST00000461438.5:n.846del
ENST00000484960.5:n.147del
ENST00000490417.6:n.280del
NM_213649.1:c.817del	NP_998814.1:p.Arg273GlyfsTer15
NR_110305.1:n.835del
XM_005269525.3:c.790del	XP_005269582.1:p.Arg264GlyfsTer15
XM_005269526.1:c.469del	XP_005269583.1:p.Arg157GlyfsTer15
XM_005269527.1:c.469del	XP_005269584.1:p.Arg157GlyfsTer15
XM_011539282.1:c.469del	XP_011537584.1:p.Arg157GlyfsTer15
XR_945603.1:n.879del
XM_005269525.5:c.790del	XP_005269582.1:p.Arg264GlyfsTer15
XM_005269526.2:c.469del	XP_005269583.1:p.Arg157GlyfsTer15
XM_011539282.2:c.469del	XP_011537584.1:p.Arg157GlyfsTer15
XM_024447793.1:c.469del	XP_024303561.1:p.Arg157GlyfsTer15
XR_001747022.1:n.1068del
XR_001747023.1:n.962del
XR_945603.3:n.898del
NM_213649.2:c.817del MANE Select	NP_998814.1:p.Arg273GlyfsTer15