Canonical Allele Identifier: CA378271612

Gene: SFXN4

Linked Data

• MyVariant Identifiers: chr10:g.120907366T>A (hg19) ; chr10:g.119147854T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119147854T>A , CM000672.2:g.119147854T>A	GRCh38
NC_000010.10:g.120907366T>A , CM000672.1:g.120907366T>A	GRCh37
NC_000010.9:g.120897356T>A	NCBI36
NG_033895.1:g.22839A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355697.7:c.739A>T MANE Select	ENSP00000347924.2:p.Arg247Ter
ENST00000355697.6:c.739A>T	ENSP00000347924.2:p.Arg247Ter
ENST00000369131.8:c.391A>T	ENSP00000358127.4:p.Arg131Ter
ENST00000461438.5:n.768A>T
ENST00000466218.5:n.688A>T
ENST00000484960.5:n.69A>T
ENST00000490417.6:n.202A>T
NM_213649.1:c.739A>T	NP_998814.1:p.Arg247Ter
NR_110305.1:n.757A>T
XM_005269525.3:c.712A>T	XP_005269582.1:p.Arg238Ter
XM_005269526.1:c.391A>T	XP_005269583.1:p.Arg131Ter
XM_005269527.1:c.391A>T	XP_005269584.1:p.Arg131Ter
XM_011539282.1:c.391A>T	XP_011537584.1:p.Arg131Ter
XR_945603.1:n.801A>T
XM_005269525.5:c.712A>T	XP_005269582.1:p.Arg238Ter
XM_005269526.2:c.391A>T	XP_005269583.1:p.Arg131Ter
XM_011539282.2:c.391A>T	XP_011537584.1:p.Arg131Ter
XM_024447793.1:c.391A>T	XP_024303561.1:p.Arg131Ter
XR_001747022.1:n.990A>T
XR_001747023.1:n.884A>T
XR_945603.3:n.820A>T
NM_213649.2:c.739A>T MANE Select	NP_998814.1:p.Arg247Ter