Canonical Allele Identifier: CA214166597

Gene: SFXN4

Linked Data

• dbSNP Id: rs911713366
• MyVariant Identifiers: chr10:g.120907367A>G (hg19) ; chr10:g.119147855A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119147855A>G , CM000672.2:g.119147855A>G	GRCh38
NC_000010.10:g.120907367A>G , CM000672.1:g.120907367A>G	GRCh37
NC_000010.9:g.120897357A>G	NCBI36
NG_033895.1:g.22838T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355697.7:c.738T>C MANE Select	ENSP00000347924.2:p.Val246=
ENST00000355697.6:c.738T>C	ENSP00000347924.2:p.Val246=
ENST00000369131.8:c.390T>C	ENSP00000358127.4:p.Val130=
ENST00000461438.5:n.767T>C
ENST00000466218.5:n.687T>C
ENST00000484960.5:n.68T>C
ENST00000490417.6:n.201T>C
NM_213649.1:c.738T>C	NP_998814.1:p.Val246=
NR_110305.1:n.756T>C
XM_005269525.3:c.711T>C	XP_005269582.1:p.Val237=
XM_005269526.1:c.390T>C	XP_005269583.1:p.Val130=
XM_005269527.1:c.390T>C	XP_005269584.1:p.Val130=
XM_011539282.1:c.390T>C	XP_011537584.1:p.Val130=
XR_945603.1:n.800T>C
XM_005269525.5:c.711T>C	XP_005269582.1:p.Val237=
XM_005269526.2:c.390T>C	XP_005269583.1:p.Val130=
XM_011539282.2:c.390T>C	XP_011537584.1:p.Val130=
XM_024447793.1:c.390T>C	XP_024303561.1:p.Val130=
XR_001747022.1:n.989T>C
XR_001747023.1:n.883T>C
XR_945603.3:n.819T>C
NM_213649.2:c.738T>C MANE Select	NP_998814.1:p.Val246=