Canonical Allele Identifier: CA410456313

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45752960G>A (hg19) ; chr21:g.44333077G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333077G>A , CM000683.2:g.44333077G>A	GRCh38
NC_000021.8:g.45752960G>A , CM000683.1:g.45752960G>A	GRCh37
NC_000021.7:g.44577388G>A	NCBI36
NG_032952.1:g.11326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.329C>T MANE Select	ENSP00000344566.4:p.Thr110Ile
ENST00000325223.7:c.329C>T	ENSP00000317302.7:p.Thr110Ile
ENST00000339818.8:c.329C>T	ENSP00000344566.4:p.Thr110Ile
ENST00000397956.7:c.329C>T	ENSP00000381047.3:p.Thr110Ile
ENST00000462742.1:n.2500C>T
ENST00000478674.1:n.388C>T
ENST00000496321.5:n.445C>T
NM_001271440.1:c.329C>T	NP_001258369.1:p.Thr110Ile
NM_001271441.1:c.329C>T	NP_001258370.1:p.Thr110Ile
NM_001271442.1:c.206C>T	NP_001258371.1:p.Thr69Ile
NM_004928.2:c.329C>T	NP_004919.1:p.Thr110Ile
XM_006724051.2:c.404C>T	XP_006724114.1:p.Thr135Ile
XM_006724052.2:c.404C>T	XP_006724115.1:p.Thr135Ile
XM_006724053.2:c.5C>T	XP_006724116.1:p.Thr2Ile
XR_937571.1:n.532C>T
XM_006724051.3:c.404C>T	XP_006724114.1:p.Thr135Ile
XM_006724053.3:c.5C>T	XP_006724116.1:p.Thr2Ile
XM_017028470.1:c.533C>T	XP_016883959.1:p.Thr178Ile
XM_017028471.1:c.278C>T	XP_016883960.1:p.Thr93Ile
XM_017028472.1:c.5C>T	XP_016883961.1:p.Thr2Ile
XR_937571.2:n.539C>T
NM_004928.3:c.329C>T MANE Select	NP_004919.1:p.Thr110Ile
NM_001271440.2:c.329C>T	NP_001258369.1:p.Thr110Ile
NM_001271441.2:c.329C>T	NP_001258370.1:p.Thr110Ile