Canonical Allele Identifier: CA410516491

Gene: FTCD

Linked Data

• dbSNP Id: rs1339133352
• gnomAD v2: 21-47570157-C-A
• gnomAD v3: 21-46150243-C-A
• gnomAD v4: 21-46150243-C-A
• MyVariant Identifiers: chr21:g.47570157C>A (hg19) ; chr21:g.46150243C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46150243C>A , CM000683.2:g.46150243C>A	GRCh38
NC_000021.8:g.47570157C>A , CM000683.1:g.47570157C>A	GRCh37
NC_000021.7:g.46394585C>A	NCBI36
NG_016191.1:g.10325G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397746.8:c.782G>T MANE Select	ENSP00000380854.3:p.Ser261Ile
ENST00000291670.9:c.782G>T	ENSP00000291670.5:p.Ser261Ile
ENST00000397743.1:c.782G>T	ENSP00000380851.1:p.Ser261Ile
ENST00000397746.7:c.782G>T	ENSP00000380854.3:p.Ser261Ile
ENST00000397748.5:c.782G>T	ENSP00000380856.1:p.Ser261Ile
ENST00000498355.6:n.851G>T
NM_006657.2:c.782G>T	NP_006648.1:p.Ser261Ile
NM_206965.1:c.782G>T	NP_996848.1:p.Ser261Ile
XM_006723961.2:c.902G>T	XP_006724024.2:p.Ser301Ile
XM_006723962.2:c.902G>T	XP_006724025.2:p.Ser301Ile
XM_011529434.1:c.902G>T	XP_011527736.1:p.Ser301Ile
XM_011529435.1:c.902G>T	XP_011527737.1:p.Ser301Ile
XM_011529436.1:c.902G>T	XP_011527738.1:p.Ser301Ile
XM_011529437.1:c.902G>T	XP_011527739.1:p.Ser301Ile
XM_011529438.1:c.902G>T	XP_011527740.1:p.Ser301Ile
XM_011529439.1:c.389G>T	XP_011527741.1:p.Ser130Ile
XM_011529440.1:c.902G>T	XP_011527742.1:p.Ser301Ile
XR_937433.1:n.1085G>T
NM_001320412.1:c.782G>T	NP_001307341.1:p.Ser261Ile
XM_006723961.4:c.902G>T	XP_006724024.2:p.Ser301Ile
XM_006723962.4:c.902G>T	XP_006724025.2:p.Ser301Ile
XM_011529434.3:c.902G>T	XP_011527736.1:p.Ser301Ile
XM_011529435.3:c.902G>T	XP_011527737.1:p.Ser301Ile
XM_011529436.3:c.902G>T	XP_011527738.1:p.Ser301Ile
XM_011529437.3:c.902G>T	XP_011527739.1:p.Ser301Ile
XM_011529439.2:c.389G>T	XP_011527741.1:p.Ser130Ile
XM_011529440.3:c.902G>T	XP_011527742.1:p.Ser301Ile
XR_937433.3:n.1119G>T
NM_206965.2:c.782G>T MANE Select	NP_996848.1:p.Ser261Ile
NM_001320412.2:c.782G>T	NP_001307341.1:p.Ser261Ile
NM_006657.3:c.782G>T	NP_006648.1:p.Ser261Ile