Canonical Allele Identifier: CA145492

Gene: SFXN4

Linked Data

• ClinVar Variation Id: 92100
• ClinVar RCV Id: RCV002514365
• dbSNP Id: rs367932369
• ExAC: 10:120917382 C / T
• gnomAD v2: 10-120917382-C-T
• gnomAD v4: 10-119157870-C-T
• MyVariant Identifiers: chr10:g.120917382C>T (hg19) ; chr10:g.119157870C>T (hg38)
• PubMed: PMID:24119684

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119157870C>T , CM000672.2:g.119157870C>T	GRCh38
NC_000010.10:g.120917382C>T , CM000672.1:g.120917382C>T	GRCh37
NC_000010.9:g.120907372C>T	NCBI36
NG_033895.1:g.12823G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355697.7:c.471+1G>A MANE Select	ENSP00000347924.2:n.471+1G>A
ENST00000355697.6:c.471+1G>A	ENSP00000347924.2:n.471+1G>A
ENST00000369131.8:c.123+1G>A	ENSP00000358127.4:n.123+1G>A
ENST00000419372.5:c.123+1G>A	ENSP00000414193.1:n.123+1G>A
ENST00000461438.5:n.500+1G>A
ENST00000466218.5:n.420+1G>A
NM_213649.1:c.471+1G>A	NP_998814.1:n.471+1G>A
NR_110305.1:n.489+1G>A
XM_005269525.3:c.444+1G>A	XP_005269582.1:n.444+1G>A
XM_005269526.1:c.123+1G>A	XP_005269583.1:n.123+1G>A
XM_005269527.1:c.123+1G>A	XP_005269584.1:n.123+1G>A
XM_011539282.1:c.123+1G>A	XP_011537584.1:n.123+1G>A
XR_945603.1:n.533+1G>A
XM_005269525.5:c.444+1G>A	XP_005269582.1:n.444+1G>A
XM_005269526.2:c.123+1G>A	XP_005269583.1:n.123+1G>A
XM_011539282.2:c.123+1G>A	XP_011537584.1:n.123+1G>A
XM_024447793.1:c.123+1G>A	XP_024303561.1:n.123+1G>A
XR_001747022.1:n.722+1G>A
XR_001747023.1:n.616+1G>A
XR_945603.3:n.552+1G>A
NM_213649.2:c.471+1G>A MANE Select	NP_998814.1:n.471+1G>A