Canonical Allele Identifier: CA2722869526

Gene: SFXN4

Linked Data

• dbSNP Id: rs2133578674

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119147602A>C , CM000672.2:g.119147602A>C	GRCh38
NC_000010.10:g.120907114A>C , CM000672.1:g.120907114A>C	GRCh37
NC_000010.9:g.120897104A>C	NCBI36
NG_033895.1:g.23091T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355697.7:c.818+173T>G MANE Select	ENSP00000347924.2:n.818+173T>G
ENST00000355697.6:c.818+173T>G	ENSP00000347924.2:n.818+173T>G
ENST00000369131.8:c.470+173T>G	ENSP00000358127.4:n.470+173T>G
ENST00000461438.5:n.847+173T>G
ENST00000484960.5:n.148+173T>G
ENST00000490417.6:n.281+173T>G
NM_213649.1:c.818+173T>G	NP_998814.1:n.818+173T>G
NR_110305.1:n.836+173T>G
XM_005269525.3:c.791+173T>G	XP_005269582.1:n.791+173T>G
XM_005269526.1:c.470+173T>G	XP_005269583.1:n.470+173T>G
XM_005269527.1:c.470+173T>G	XP_005269584.1:n.470+173T>G
XM_011539282.1:c.470+173T>G	XP_011537584.1:n.470+173T>G
XR_945603.1:n.880+173T>G
XM_005269525.5:c.791+173T>G	XP_005269582.1:n.791+173T>G
XM_005269526.2:c.470+173T>G	XP_005269583.1:n.470+173T>G
XM_011539282.2:c.470+173T>G	XP_011537584.1:n.470+173T>G
XM_024447793.1:c.470+173T>G	XP_024303561.1:n.470+173T>G
XR_001747022.1:n.1069+173T>G
XR_001747023.1:n.963+173T>G
XR_945603.3:n.899+173T>G
NM_213649.2:c.818+173T>G MANE Select	NP_998814.1:n.818+173T>G