Canonical Allele Identifier: CA10073481

Gene: FTCD

Linked Data

• dbSNP Id: rs754699274
• ExAC: 21:47558540 T / G
• gnomAD v2: 21-47558540-T-G
• gnomAD v4: 21-46138626-T-G
• MyVariant Identifiers: chr21:g.47558540T>G (hg19) ; chr21:g.46138626T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138626T>G , CM000683.2:g.46138626T>G	GRCh38
NC_000021.8:g.47558540T>G , CM000683.1:g.47558540T>G	GRCh37
NC_000021.7:g.46382968T>G	NCBI36
NG_016191.1:g.21942A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460011.6:c.-140A>C	ENSP00000507070.1:n.-140A>C
ENST00000494498.2:c.59A>C	ENSP00000507847.1:p.Glu20Ala
ENST00000397746.8:c.1325A>C MANE Select	ENSP00000380854.3:p.Glu442Ala
ENST00000291670.9:c.1325A>C	ENSP00000291670.5:p.Glu442Ala
ENST00000397743.1:c.1281A>C	ENSP00000380851.1:p.Gly427=
ENST00000397746.7:c.1325A>C	ENSP00000380854.3:p.Glu442Ala
ENST00000397748.5:c.1325A>C	ENSP00000380856.1:p.Glu442Ala
ENST00000460011.5:n.654A>C
ENST00000488577.1:n.351A>C
ENST00000494498.1:n.626A>C
ENST00000498355.6:n.1394A>C
NM_006657.2:c.1325A>C	NP_006648.1:p.Glu442Ala
NM_206965.1:c.1325A>C	NP_996848.1:p.Glu442Ala
XM_006723961.2:c.1574A>C	XP_006724024.2:p.Glu525Ala
XM_006723962.2:c.1574A>C	XP_006724025.2:p.Glu525Ala
XM_011529434.1:c.1574A>C	XP_011527736.1:p.Glu525Ala
XM_011529435.1:c.1445A>C	XP_011527737.1:p.Glu482Ala
XM_011529436.1:c.1574A>C	XP_011527738.1:p.Glu525Ala
XM_011529437.1:c.1574A>C	XP_011527739.1:p.Glu525Ala
XM_011529438.1:c.1445A>C	XP_011527740.1:p.Glu482Ala
XM_011529439.1:c.1061A>C	XP_011527741.1:p.Glu354Ala
XR_937433.1:n.1757A>C
NM_001320412.1:c.1325A>C	NP_001307341.1:p.Glu442Ala
XM_006723961.4:c.1574A>C	XP_006724024.2:p.Glu525Ala
XM_006723962.4:c.1574A>C	XP_006724025.2:p.Glu525Ala
XM_011529434.3:c.1574A>C	XP_011527736.1:p.Glu525Ala
XM_011529435.3:c.1445A>C	XP_011527737.1:p.Glu482Ala
XM_011529436.3:c.1574A>C	XP_011527738.1:p.Glu525Ala
XM_011529437.3:c.1574A>C	XP_011527739.1:p.Glu525Ala
XM_011529439.2:c.1061A>C	XP_011527741.1:p.Glu354Ala
XR_937433.3:n.1791A>C
NM_206965.2:c.1325A>C MANE Select	NP_996848.1:p.Glu442Ala
NM_001320412.2:c.1325A>C	NP_001307341.1:p.Glu442Ala
NM_006657.3:c.1325A>C	NP_006648.1:p.Glu442Ala