Canonical Allele Identifier: CA214166599

Gene: SFXN4

Linked Data

• dbSNP Id: rs965941576
• gnomAD v2: 10-120907371-G-A
• gnomAD v4: 10-119147859-G-A
• MyVariant Identifiers: chr10:g.120907371G>A (hg19) ; chr10:g.119147859G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119147859G>A , CM000672.2:g.119147859G>A	GRCh38
NC_000010.10:g.120907371G>A , CM000672.1:g.120907371G>A	GRCh37
NC_000010.9:g.120897361G>A	NCBI36
NG_033895.1:g.22834C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355697.7:c.734C>T MANE Select	ENSP00000347924.2:p.Ala245Val
ENST00000355697.6:c.734C>T	ENSP00000347924.2:p.Ala245Val
ENST00000369131.8:c.386C>T	ENSP00000358127.4:p.Ala129Val
ENST00000461438.5:n.763C>T
ENST00000466218.5:n.683C>T
ENST00000484960.5:n.64C>T
ENST00000490417.6:n.197C>T
NM_213649.1:c.734C>T	NP_998814.1:p.Ala245Val
NR_110305.1:n.752C>T
XM_005269525.3:c.707C>T	XP_005269582.1:p.Ala236Val
XM_005269526.1:c.386C>T	XP_005269583.1:p.Ala129Val
XM_005269527.1:c.386C>T	XP_005269584.1:p.Ala129Val
XM_011539282.1:c.386C>T	XP_011537584.1:p.Ala129Val
XR_945603.1:n.796C>T
XM_005269525.5:c.707C>T	XP_005269582.1:p.Ala236Val
XM_005269526.2:c.386C>T	XP_005269583.1:p.Ala129Val
XM_011539282.2:c.386C>T	XP_011537584.1:p.Ala129Val
XM_024447793.1:c.386C>T	XP_024303561.1:p.Ala129Val
XR_001747022.1:n.985C>T
XR_001747023.1:n.879C>T
XR_945603.3:n.815C>T
NM_213649.2:c.734C>T MANE Select	NP_998814.1:p.Ala245Val