Canonical Allele Identifier: CA378271306

Gene: SFXN4

Linked Data

• dbSNP Id: rs1300881746
• gnomAD v2: 10-120907297-A-G
• gnomAD v4: 10-119147785-A-G
• MyVariant Identifiers: chr10:g.120907297A>G (hg19) ; chr10:g.119147785A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119147785A>G , CM000672.2:g.119147785A>G	GRCh38
NC_000010.10:g.120907297A>G , CM000672.1:g.120907297A>G	GRCh37
NC_000010.9:g.120897287A>G	NCBI36
NG_033895.1:g.22908T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355697.7:c.808T>C MANE Select	ENSP00000347924.2:p.Phe270Leu
ENST00000355697.6:c.808T>C	ENSP00000347924.2:p.Phe270Leu
ENST00000369131.8:c.460T>C	ENSP00000358127.4:p.Phe154Leu
ENST00000461438.5:n.837T>C
ENST00000466218.5:n.757T>C
ENST00000484960.5:n.138T>C
ENST00000490417.6:n.271T>C
NM_213649.1:c.808T>C	NP_998814.1:p.Phe270Leu
NR_110305.1:n.826T>C
XM_005269525.3:c.781T>C	XP_005269582.1:p.Phe261Leu
XM_005269526.1:c.460T>C	XP_005269583.1:p.Phe154Leu
XM_005269527.1:c.460T>C	XP_005269584.1:p.Phe154Leu
XM_011539282.1:c.460T>C	XP_011537584.1:p.Phe154Leu
XR_945603.1:n.870T>C
XM_005269525.5:c.781T>C	XP_005269582.1:p.Phe261Leu
XM_005269526.2:c.460T>C	XP_005269583.1:p.Phe154Leu
XM_011539282.2:c.460T>C	XP_011537584.1:p.Phe154Leu
XM_024447793.1:c.460T>C	XP_024303561.1:p.Phe154Leu
XR_001747022.1:n.1059T>C
XR_001747023.1:n.953T>C
XR_945603.3:n.889T>C
NM_213649.2:c.808T>C MANE Select	NP_998814.1:p.Phe270Leu