Canonical Allele Identifier: CA174776

Gene: FAXC

Linked Data

• ClinVar Variation Id: 161783
• ClinVar RCV Id: RCV000149319
• dbSNP Id: rs193921041
• COSMIC: COSM1179039
• MyVariant Identifiers: chr6:g.99739628G>C (hg19) ; chr6:g.99291752G>C (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.99291752G>C , CM000668.2:g.99291752G>C	GRCh38
NC_000006.11:g.99739628G>C , CM000668.1:g.99739628G>C	GRCh37
NC_000006.10:g.99846349G>C	NCBI36
NG_051943.1:g.63559C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389677.6:c.892C>G MANE Select	ENSP00000374328.4:p.Gln298Glu
ENST00000389677.5:c.892C>G	ENSP00000374328.4:p.Gln298Glu
ENST00000538471.1:c.52C>G	ENSP00000445267.1:p.Gln18Glu
NM_032511.2:c.892C>G	NP_115900.1:p.Gln298Glu
XM_005267164.3:c.493C>G	XP_005267221.1:p.Gln165Glu
XM_006715581.2:c.733C>G	XP_006715644.1:p.Gln245Glu
XM_006715582.2:c.244C>G	XP_006715645.1:p.Gln82Glu
XM_011536186.1:c.733C>G	XP_011534488.1:p.Gln245Glu
XM_011536187.1:c.*115C>G	XP_011534489.1:n.*115C>G
XM_011536188.1:c.529C>G	XP_011534490.1:p.Gln177Glu
NM_001346530.1:c.529C>G	NP_001333459.1:p.Gln177Glu
NM_001346531.1:c.733C>G	NP_001333460.1:p.Gln245Glu
NM_001346532.1:c.733C>G	NP_001333461.1:p.Gln245Glu
NM_001346533.1:c.529C>G	NP_001333462.1:p.Gln177Glu
NM_032511.3:c.892C>G	NP_115900.1:p.Gln298Glu
NR_144463.1:n.819C>G
NR_144464.1:n.784C>G
NM_032511.4:c.892C>G MANE Select	NP_115900.1:p.Gln298Glu
NM_001346530.2:c.529C>G	NP_001333459.1:p.Gln177Glu
NM_001346531.2:c.733C>G	NP_001333460.1:p.Gln245Glu
NR_144463.2:n.565C>G