Canonical Allele Identifier: CA471625174

Gene: SFXN4

Linked Data

• gnomAD v4: 10-119147854-T-G
• MyVariant Identifiers: chr10:g.120907366T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119147854T>G , CM000672.2:g.119147854T>G	GRCh38
NC_000010.10:g.120907366T>G , CM000672.1:g.120907366T>G	GRCh37
NC_000010.9:g.120897356T>G	NCBI36
NG_033895.1:g.22839A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355697.7:c.739A>C MANE Select	ENSP00000347924.2:p.Arg247=
ENST00000355697.6:c.739A>C	ENSP00000347924.2:p.Arg247=
ENST00000369131.8:c.391A>C	ENSP00000358127.4:p.Arg131=
ENST00000461438.5:n.768A>C
ENST00000466218.5:n.688A>C
ENST00000484960.5:n.69A>C
ENST00000490417.6:n.202A>C
NM_213649.1:c.739A>C	NP_998814.1:p.Arg247=
NR_110305.1:n.757A>C
XM_005269525.3:c.712A>C	XP_005269582.1:p.Arg238=
XM_005269526.1:c.391A>C	XP_005269583.1:p.Arg131=
XM_005269527.1:c.391A>C	XP_005269584.1:p.Arg131=
XM_011539282.1:c.391A>C	XP_011537584.1:p.Arg131=
XR_945603.1:n.801A>C
XM_005269525.5:c.712A>C	XP_005269582.1:p.Arg238=
XM_005269526.2:c.391A>C	XP_005269583.1:p.Arg131=
XM_011539282.2:c.391A>C	XP_011537584.1:p.Arg131=
XM_024447793.1:c.391A>C	XP_024303561.1:p.Arg131=
XR_001747022.1:n.990A>C
XR_001747023.1:n.884A>C
XR_945603.3:n.820A>C
NM_213649.2:c.739A>C MANE Select	NP_998814.1:p.Arg247=