Canonical Allele Identifier: CA5714444
Community Standard Title: NM_213649.2(SFXN4):c.617-3C>T
Gene: SFXN4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119155180G>A , CM000672.2:g.119155180G>A GRCh38
NC_000010.10:g.120914692G>A , CM000672.1:g.120914692G>A GRCh37
NC_000010.9:g.120904682G>A NCBI36
NG_033895.1:g.15513C>T

Transcript Alleles

HGVS Amino-acid Change
NM_213649.2:c.617-3C>T MANE Select NP_998814.1:n.617-3C>T
ENST00000355697.7:c.617-3C>T MANE Select ENSP00000347924.2:n.617-3C>T
NM_213649.1:c.617-3C>T NP_998814.1:n.617-3C>T
NR_110305.1:n.635-3C>T
ENST00000355697.6:c.617-3C>T ENSP00000347924.2:n.617-3C>T
ENST00000369131.8:c.269-3C>T ENSP00000358127.4:n.269-3C>T
ENST00000461438.5:n.646-3C>T
ENST00000466218.5:n.566-3C>T
ENST00000490417.6:n.80-3C>T
XM_005269525.3:c.590-3C>T XP_005269582.1:n.590-3C>T
XM_005269525.5:c.590-3C>T XP_005269582.1:n.590-3C>T
XM_005269526.1:c.269-3C>T XP_005269583.1:n.269-3C>T
XM_005269526.2:c.269-3C>T XP_005269583.1:n.269-3C>T
XM_005269527.1:c.269-3C>T XP_005269584.1:n.269-3C>T
XM_011539282.1:c.269-3C>T XP_011537584.1:n.269-3C>T
XM_011539282.2:c.269-3C>T XP_011537584.1:n.269-3C>T
XM_024447793.1:c.269-3C>T XP_024303561.1:n.269-3C>T
XR_001747022.1:n.868-3C>T
XR_001747023.1:n.762-3C>T
XR_945603.1:n.679-3C>T
XR_945603.3:n.698-3C>T