Canonical Allele Identifier: CA378271619

Gene: SFXN4

Linked Data

• MyVariant Identifiers: chr10:g.120907369C>T (hg19) ; chr10:g.119147857C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119147857C>T , CM000672.2:g.119147857C>T	GRCh38
NC_000010.10:g.120907369C>T , CM000672.1:g.120907369C>T	GRCh37
NC_000010.9:g.120897359C>T	NCBI36
NG_033895.1:g.22836G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355697.7:c.736G>A MANE Select	ENSP00000347924.2:p.Val246Ile
ENST00000355697.6:c.736G>A	ENSP00000347924.2:p.Val246Ile
ENST00000369131.8:c.388G>A	ENSP00000358127.4:p.Val130Ile
ENST00000461438.5:n.765G>A
ENST00000466218.5:n.685G>A
ENST00000484960.5:n.66G>A
ENST00000490417.6:n.199G>A
NM_213649.1:c.736G>A	NP_998814.1:p.Val246Ile
NR_110305.1:n.754G>A
XM_005269525.3:c.709G>A	XP_005269582.1:p.Val237Ile
XM_005269526.1:c.388G>A	XP_005269583.1:p.Val130Ile
XM_005269527.1:c.388G>A	XP_005269584.1:p.Val130Ile
XM_011539282.1:c.388G>A	XP_011537584.1:p.Val130Ile
XR_945603.1:n.798G>A
XM_005269525.5:c.709G>A	XP_005269582.1:p.Val237Ile
XM_005269526.2:c.388G>A	XP_005269583.1:p.Val130Ile
XM_011539282.2:c.388G>A	XP_011537584.1:p.Val130Ile
XM_024447793.1:c.388G>A	XP_024303561.1:p.Val130Ile
XR_001747022.1:n.987G>A
XR_001747023.1:n.881G>A
XR_945603.3:n.817G>A
NM_213649.2:c.736G>A MANE Select	NP_998814.1:p.Val246Ile