Canonical Allele Identifier: CA410516502

Gene: FTCD

Linked Data

• gnomAD v4: 21-46150248-C-G
• MyVariant Identifiers: chr21:g.47570162C>G (hg19) ; chr21:g.46150248C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46150248C>G , CM000683.2:g.46150248C>G	GRCh38
NC_000021.8:g.47570162C>G , CM000683.1:g.47570162C>G	GRCh37
NC_000021.7:g.46394590C>G	NCBI36
NG_016191.1:g.10320G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397746.8:c.777G>C MANE Select	ENSP00000380854.3:p.Glu259Asp
ENST00000291670.9:c.777G>C	ENSP00000291670.5:p.Glu259Asp
ENST00000397743.1:c.777G>C	ENSP00000380851.1:p.Glu259Asp
ENST00000397746.7:c.777G>C	ENSP00000380854.3:p.Glu259Asp
ENST00000397748.5:c.777G>C	ENSP00000380856.1:p.Glu259Asp
ENST00000498355.6:n.846G>C
NM_006657.2:c.777G>C	NP_006648.1:p.Glu259Asp
NM_206965.1:c.777G>C	NP_996848.1:p.Glu259Asp
XM_006723961.2:c.897G>C	XP_006724024.2:p.Glu299Asp
XM_006723962.2:c.897G>C	XP_006724025.2:p.Glu299Asp
XM_011529434.1:c.897G>C	XP_011527736.1:p.Glu299Asp
XM_011529435.1:c.897G>C	XP_011527737.1:p.Glu299Asp
XM_011529436.1:c.897G>C	XP_011527738.1:p.Glu299Asp
XM_011529437.1:c.897G>C	XP_011527739.1:p.Glu299Asp
XM_011529438.1:c.897G>C	XP_011527740.1:p.Glu299Asp
XM_011529439.1:c.384G>C	XP_011527741.1:p.Glu128Asp
XM_011529440.1:c.897G>C	XP_011527742.1:p.Glu299Asp
XR_937433.1:n.1080G>C
NM_001320412.1:c.777G>C	NP_001307341.1:p.Glu259Asp
XM_006723961.4:c.897G>C	XP_006724024.2:p.Glu299Asp
XM_006723962.4:c.897G>C	XP_006724025.2:p.Glu299Asp
XM_011529434.3:c.897G>C	XP_011527736.1:p.Glu299Asp
XM_011529435.3:c.897G>C	XP_011527737.1:p.Glu299Asp
XM_011529436.3:c.897G>C	XP_011527738.1:p.Glu299Asp
XM_011529437.3:c.897G>C	XP_011527739.1:p.Glu299Asp
XM_011529439.2:c.384G>C	XP_011527741.1:p.Glu128Asp
XM_011529440.3:c.897G>C	XP_011527742.1:p.Glu299Asp
XR_937433.3:n.1114G>C
NM_206965.2:c.777G>C MANE Select	NP_996848.1:p.Glu259Asp
NM_001320412.2:c.777G>C	NP_001307341.1:p.Glu259Asp
NM_006657.3:c.777G>C	NP_006648.1:p.Glu259Asp