Canonical Allele Identifier: CA596305034

Gene: SFXN4

Linked Data

• dbSNP Id: rs1478549577
• gnomAD v2: 10-120907204-C-T
• gnomAD v3: 10-119147692-C-T
• gnomAD v4: 10-119147692-C-T
• MyVariant Identifiers: chr10:g.120907204C>T (hg19) ; chr10:g.119147692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119147692C>T , CM000672.2:g.119147692C>T	GRCh38
NC_000010.10:g.120907204C>T , CM000672.1:g.120907204C>T	GRCh37
NC_000010.9:g.120897194C>T	NCBI36
NG_033895.1:g.23001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355697.7:c.818+83G>A MANE Select	ENSP00000347924.2:n.818+83G>A
ENST00000355697.6:c.818+83G>A	ENSP00000347924.2:n.818+83G>A
ENST00000369131.8:c.470+83G>A	ENSP00000358127.4:n.470+83G>A
ENST00000461438.5:n.847+83G>A
ENST00000484960.5:n.148+83G>A
ENST00000490417.6:n.281+83G>A
NM_213649.1:c.818+83G>A	NP_998814.1:n.818+83G>A
NR_110305.1:n.836+83G>A
XM_005269525.3:c.791+83G>A	XP_005269582.1:n.791+83G>A
XM_005269526.1:c.470+83G>A	XP_005269583.1:n.470+83G>A
XM_005269527.1:c.470+83G>A	XP_005269584.1:n.470+83G>A
XM_011539282.1:c.470+83G>A	XP_011537584.1:n.470+83G>A
XR_945603.1:n.880+83G>A
XM_005269525.5:c.791+83G>A	XP_005269582.1:n.791+83G>A
XM_005269526.2:c.470+83G>A	XP_005269583.1:n.470+83G>A
XM_011539282.2:c.470+83G>A	XP_011537584.1:n.470+83G>A
XM_024447793.1:c.470+83G>A	XP_024303561.1:n.470+83G>A
XR_001747022.1:n.1069+83G>A
XR_001747023.1:n.963+83G>A
XR_945603.3:n.899+83G>A
NM_213649.2:c.818+83G>A MANE Select	NP_998814.1:n.818+83G>A