Canonical Allele Identifier: CA378271618
Gene: SFXN4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119147857C>G , CM000672.2:g.119147857C>G GRCh38
NC_000010.10:g.120907369C>G , CM000672.1:g.120907369C>G GRCh37
NC_000010.9:g.120897359C>G NCBI36
NG_033895.1:g.22836G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355697.7:c.736G>C MANE Select ENSP00000347924.2:p.Val246Leu
ENST00000355697.6:c.736G>C ENSP00000347924.2:p.Val246Leu
ENST00000369131.8:c.388G>C ENSP00000358127.4:p.Val130Leu
ENST00000461438.5:n.765G>C
ENST00000466218.5:n.685G>C
ENST00000484960.5:n.66G>C
ENST00000490417.6:n.199G>C
NM_213649.1:c.736G>C NP_998814.1:p.Val246Leu
NR_110305.1:n.754G>C
XM_005269525.3:c.709G>C XP_005269582.1:p.Val237Leu
XM_005269526.1:c.388G>C XP_005269583.1:p.Val130Leu
XM_005269527.1:c.388G>C XP_005269584.1:p.Val130Leu
XM_011539282.1:c.388G>C XP_011537584.1:p.Val130Leu
XR_945603.1:n.798G>C
XM_005269525.5:c.709G>C XP_005269582.1:p.Val237Leu
XM_005269526.2:c.388G>C XP_005269583.1:p.Val130Leu
XM_011539282.2:c.388G>C XP_011537584.1:p.Val130Leu
XM_024447793.1:c.388G>C XP_024303561.1:p.Val130Leu
XR_001747022.1:n.987G>C
XR_001747023.1:n.881G>C
XR_945603.3:n.817G>C
NM_213649.2:c.736G>C MANE Select NP_998814.1:p.Val246Leu