Canonical Allele Identifier: CA378271615
Gene: SFXN4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119147856A>G , CM000672.2:g.119147856A>G GRCh38
NC_000010.10:g.120907368A>G , CM000672.1:g.120907368A>G GRCh37
NC_000010.9:g.120897358A>G NCBI36
NG_033895.1:g.22837T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355697.7:c.737T>C MANE Select ENSP00000347924.2:p.Val246Ala
ENST00000355697.6:c.737T>C ENSP00000347924.2:p.Val246Ala
ENST00000369131.8:c.389T>C ENSP00000358127.4:p.Val130Ala
ENST00000461438.5:n.766T>C
ENST00000466218.5:n.686T>C
ENST00000484960.5:n.67T>C
ENST00000490417.6:n.200T>C
NM_213649.1:c.737T>C NP_998814.1:p.Val246Ala
NR_110305.1:n.755T>C
XM_005269525.3:c.710T>C XP_005269582.1:p.Val237Ala
XM_005269526.1:c.389T>C XP_005269583.1:p.Val130Ala
XM_005269527.1:c.389T>C XP_005269584.1:p.Val130Ala
XM_011539282.1:c.389T>C XP_011537584.1:p.Val130Ala
XR_945603.1:n.799T>C
XM_005269525.5:c.710T>C XP_005269582.1:p.Val237Ala
XM_005269526.2:c.389T>C XP_005269583.1:p.Val130Ala
XM_011539282.2:c.389T>C XP_011537584.1:p.Val130Ala
XM_024447793.1:c.389T>C XP_024303561.1:p.Val130Ala
XR_001747022.1:n.988T>C
XR_001747023.1:n.882T>C
XR_945603.3:n.818T>C
NM_213649.2:c.737T>C MANE Select NP_998814.1:p.Val246Ala