Canonical Allele Identifier: CA378271624

Gene: SFXN4

Linked Data

• MyVariant Identifiers: chr10:g.120907371G>T (hg19) ; chr10:g.119147859G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355697.7:c.734C>A MANE Select	ENSP00000347924.2:p.Ala245Asp
ENST00000355697.6:c.734C>A	ENSP00000347924.2:p.Ala245Asp
ENST00000369131.8:c.386C>A	ENSP00000358127.4:p.Ala129Asp
ENST00000461438.5:n.763C>A
ENST00000466218.5:n.683C>A
ENST00000484960.5:n.64C>A
ENST00000490417.6:n.197C>A
NM_213649.1:c.734C>A	NP_998814.1:p.Ala245Asp
NR_110305.1:n.752C>A
XM_005269525.3:c.707C>A	XP_005269582.1:p.Ala236Asp
XM_005269526.1:c.386C>A	XP_005269583.1:p.Ala129Asp
XM_005269527.1:c.386C>A	XP_005269584.1:p.Ala129Asp
XM_011539282.1:c.386C>A	XP_011537584.1:p.Ala129Asp
XR_945603.1:n.796C>A
XM_005269525.5:c.707C>A	XP_005269582.1:p.Ala236Asp
XM_005269526.2:c.386C>A	XP_005269583.1:p.Ala129Asp
XM_011539282.2:c.386C>A	XP_011537584.1:p.Ala129Asp
XM_024447793.1:c.386C>A	XP_024303561.1:p.Ala129Asp
XR_001747022.1:n.985C>A
XR_001747023.1:n.879C>A
XR_945603.3:n.815C>A
NM_213649.2:c.734C>A MANE Select	NP_998814.1:p.Ala245Asp