Canonical Allele Identifier: CA378271629

Gene: SFXN4

Linked Data

• MyVariant Identifiers: chr10:g.120907372C>G (hg19) ; chr10:g.119147860C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119147860C>G , CM000672.2:g.119147860C>G	GRCh38
NC_000010.10:g.120907372C>G , CM000672.1:g.120907372C>G	GRCh37
NC_000010.9:g.120897362C>G	NCBI36
NG_033895.1:g.22833G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355697.7:c.733G>C MANE Select	ENSP00000347924.2:p.Ala245Pro
ENST00000355697.6:c.733G>C	ENSP00000347924.2:p.Ala245Pro
ENST00000369131.8:c.385G>C	ENSP00000358127.4:p.Ala129Pro
ENST00000461438.5:n.762G>C
ENST00000466218.5:n.682G>C
ENST00000484960.5:n.63G>C
ENST00000490417.6:n.196G>C
NM_213649.1:c.733G>C	NP_998814.1:p.Ala245Pro
NR_110305.1:n.751G>C
XM_005269525.3:c.706G>C	XP_005269582.1:p.Ala236Pro
XM_005269526.1:c.385G>C	XP_005269583.1:p.Ala129Pro
XM_005269527.1:c.385G>C	XP_005269584.1:p.Ala129Pro
XM_011539282.1:c.385G>C	XP_011537584.1:p.Ala129Pro
XR_945603.1:n.795G>C
XM_005269525.5:c.706G>C	XP_005269582.1:p.Ala236Pro
XM_005269526.2:c.385G>C	XP_005269583.1:p.Ala129Pro
XM_011539282.2:c.385G>C	XP_011537584.1:p.Ala129Pro
XM_024447793.1:c.385G>C	XP_024303561.1:p.Ala129Pro
XR_001747022.1:n.984G>C
XR_001747023.1:n.878G>C
XR_945603.3:n.814G>C
NM_213649.2:c.733G>C MANE Select	NP_998814.1:p.Ala245Pro