Canonical Allele Identifier: CA933098984

Gene: SFXN4

Linked Data

• dbSNP Id: rs1846870346
• gnomAD v3: 10-119147547-CG-C
• gnomAD v4: 10-119147547-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119147551del , CM000672.2:g.119147551del	GRCh38
NC_000010.10:g.120907063del , CM000672.1:g.120907063del	GRCh37
NC_000010.9:g.120897053del	NCBI36
NG_033895.1:g.23145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355697.7:c.818+227del MANE Select	ENSP00000347924.2:n.818+227del
ENST00000355697.6:c.818+227del	ENSP00000347924.2:n.818+227del
ENST00000369131.8:c.470+227del	ENSP00000358127.4:n.470+227del
ENST00000461438.5:n.847+227del
ENST00000484960.5:n.148+227del
ENST00000490417.6:n.281+227del
NM_213649.1:c.818+227del	NP_998814.1:n.818+227del
NR_110305.1:n.836+227del
XM_005269525.3:c.791+227del	XP_005269582.1:n.791+227del
XM_005269526.1:c.470+227del	XP_005269583.1:n.470+227del
XM_005269527.1:c.470+227del	XP_005269584.1:n.470+227del
XM_011539282.1:c.470+227del	XP_011537584.1:n.470+227del
XR_945603.1:n.880+227del
XM_005269525.5:c.791+227del	XP_005269582.1:n.791+227del
XM_005269526.2:c.470+227del	XP_005269583.1:n.470+227del
XM_011539282.2:c.470+227del	XP_011537584.1:n.470+227del
XM_024447793.1:c.470+227del	XP_024303561.1:n.470+227del
XR_001747022.1:n.1069+227del
XR_001747023.1:n.963+227del
XR_945603.3:n.899+227del
NM_213649.2:c.818+227del MANE Select	NP_998814.1:n.818+227del