Canonical Allele Identifier: CA378271616

Gene: SFXN4

Linked Data

• MyVariant Identifiers: chr10:g.120907368A>T (hg19) ; chr10:g.119147856A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119147856A>T , CM000672.2:g.119147856A>T	GRCh38
NC_000010.10:g.120907368A>T , CM000672.1:g.120907368A>T	GRCh37
NC_000010.9:g.120897358A>T	NCBI36
NG_033895.1:g.22837T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355697.7:c.737T>A MANE Select	ENSP00000347924.2:p.Val246Asp
ENST00000355697.6:c.737T>A	ENSP00000347924.2:p.Val246Asp
ENST00000369131.8:c.389T>A	ENSP00000358127.4:p.Val130Asp
ENST00000461438.5:n.766T>A
ENST00000466218.5:n.686T>A
ENST00000484960.5:n.67T>A
ENST00000490417.6:n.200T>A
NM_213649.1:c.737T>A	NP_998814.1:p.Val246Asp
NR_110305.1:n.755T>A
XM_005269525.3:c.710T>A	XP_005269582.1:p.Val237Asp
XM_005269526.1:c.389T>A	XP_005269583.1:p.Val130Asp
XM_005269527.1:c.389T>A	XP_005269584.1:p.Val130Asp
XM_011539282.1:c.389T>A	XP_011537584.1:p.Val130Asp
XR_945603.1:n.799T>A
XM_005269525.5:c.710T>A	XP_005269582.1:p.Val237Asp
XM_005269526.2:c.389T>A	XP_005269583.1:p.Val130Asp
XM_011539282.2:c.389T>A	XP_011537584.1:p.Val130Asp
XM_024447793.1:c.389T>A	XP_024303561.1:p.Val130Asp
XR_001747022.1:n.988T>A
XR_001747023.1:n.882T>A
XR_945603.3:n.818T>A
NM_213649.2:c.737T>A MANE Select	NP_998814.1:p.Val246Asp