Canonical Allele Identifier: CA378271627

Gene: SFXN4

Linked Data

• MyVariant Identifiers: chr10:g.120907372C>T (hg19) ; chr10:g.119147860C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119147860C>T , CM000672.2:g.119147860C>T	GRCh38
NC_000010.10:g.120907372C>T , CM000672.1:g.120907372C>T	GRCh37
NC_000010.9:g.120897362C>T	NCBI36
NG_033895.1:g.22833G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355697.7:c.733G>A MANE Select	ENSP00000347924.2:p.Ala245Thr
ENST00000355697.6:c.733G>A	ENSP00000347924.2:p.Ala245Thr
ENST00000369131.8:c.385G>A	ENSP00000358127.4:p.Ala129Thr
ENST00000461438.5:n.762G>A
ENST00000466218.5:n.682G>A
ENST00000484960.5:n.63G>A
ENST00000490417.6:n.196G>A
NM_213649.1:c.733G>A	NP_998814.1:p.Ala245Thr
NR_110305.1:n.751G>A
XM_005269525.3:c.706G>A	XP_005269582.1:p.Ala236Thr
XM_005269526.1:c.385G>A	XP_005269583.1:p.Ala129Thr
XM_005269527.1:c.385G>A	XP_005269584.1:p.Ala129Thr
XM_011539282.1:c.385G>A	XP_011537584.1:p.Ala129Thr
XR_945603.1:n.795G>A
XM_005269525.5:c.706G>A	XP_005269582.1:p.Ala236Thr
XM_005269526.2:c.385G>A	XP_005269583.1:p.Ala129Thr
XM_011539282.2:c.385G>A	XP_011537584.1:p.Ala129Thr
XM_024447793.1:c.385G>A	XP_024303561.1:p.Ala129Thr
XR_001747022.1:n.984G>A
XR_001747023.1:n.878G>A
XR_945603.3:n.814G>A
NM_213649.2:c.733G>A MANE Select	NP_998814.1:p.Ala245Thr