Canonical Allele Identifier: CA13171072

Gene: SFXN4

Linked Data

• ClinVar Variation Id: 683831
• ClinVar RCV Id: RCV000844014
• dbSNP Id: rs12416178
• gnomAD v2: 10-120907118-G-A
• gnomAD v3: 10-119147606-G-A
• gnomAD v4: 10-119147606-G-A
• MyVariant Identifiers: chr10:g.120907118G>A (hg19) ; chr10:g.119147606G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119147606G>A , CM000672.2:g.119147606G>A	GRCh38
NC_000010.10:g.120907118G>A , CM000672.1:g.120907118G>A	GRCh37
NC_000010.9:g.120897108G>A	NCBI36
NG_033895.1:g.23087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355697.7:c.818+169C>T MANE Select	ENSP00000347924.2:n.818+169C>T
ENST00000355697.6:c.818+169C>T	ENSP00000347924.2:n.818+169C>T
ENST00000369131.8:c.470+169C>T	ENSP00000358127.4:n.470+169C>T
ENST00000461438.5:n.847+169C>T
ENST00000484960.5:n.148+169C>T
ENST00000490417.6:n.281+169C>T
NM_213649.1:c.818+169C>T	NP_998814.1:n.818+169C>T
NR_110305.1:n.836+169C>T
XM_005269525.3:c.791+169C>T	XP_005269582.1:n.791+169C>T
XM_005269526.1:c.470+169C>T	XP_005269583.1:n.470+169C>T
XM_005269527.1:c.470+169C>T	XP_005269584.1:n.470+169C>T
XM_011539282.1:c.470+169C>T	XP_011537584.1:n.470+169C>T
XR_945603.1:n.880+169C>T
XM_005269525.5:c.791+169C>T	XP_005269582.1:n.791+169C>T
XM_005269526.2:c.470+169C>T	XP_005269583.1:n.470+169C>T
XM_011539282.2:c.470+169C>T	XP_011537584.1:n.470+169C>T
XM_024447793.1:c.470+169C>T	XP_024303561.1:n.470+169C>T
XR_001747022.1:n.1069+169C>T
XR_001747023.1:n.963+169C>T
XR_945603.3:n.899+169C>T
NM_213649.2:c.818+169C>T MANE Select	NP_998814.1:n.818+169C>T