Canonical Allele Identifier: CA410456660

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45753003C>A (hg19) ; chr21:g.44333120C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333120C>A , CM000683.2:g.44333120C>A	GRCh38
NC_000021.8:g.45753003C>A , CM000683.1:g.45753003C>A	GRCh37
NC_000021.7:g.44577431C>A	NCBI36
NG_032952.1:g.11283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.286G>T MANE Select	ENSP00000344566.4:p.Glu96Ter
ENST00000325223.7:c.286G>T	ENSP00000317302.7:p.Glu96Ter
ENST00000339818.8:c.286G>T	ENSP00000344566.4:p.Glu96Ter
ENST00000397956.7:c.286G>T	ENSP00000381047.3:p.Glu96Ter
ENST00000462742.1:n.2457G>T
ENST00000478674.1:n.345G>T
ENST00000496321.5:n.402G>T
NM_001271440.1:c.286G>T	NP_001258369.1:p.Glu96Ter
NM_001271441.1:c.286G>T	NP_001258370.1:p.Glu96Ter
NM_001271442.1:c.163G>T	NP_001258371.1:p.Glu55Ter
NM_004928.2:c.286G>T	NP_004919.1:p.Glu96Ter
XM_006724051.2:c.361G>T	XP_006724114.1:p.Glu121Ter
XM_006724052.2:c.361G>T	XP_006724115.1:p.Glu121Ter
XM_006724053.2:c.-39G>T	XP_006724116.1:n.-39G>T
XR_937571.1:n.489G>T
XM_006724051.3:c.361G>T	XP_006724114.1:p.Glu121Ter
XM_006724053.3:c.-39G>T	XP_006724116.1:n.-39G>T
XM_017028470.1:c.490G>T	XP_016883959.1:p.Glu164Ter
XM_017028471.1:c.235G>T	XP_016883960.1:p.Glu79Ter
XM_017028472.1:c.-39G>T	XP_016883961.1:n.-39G>T
XR_937571.2:n.496G>T
NM_004928.3:c.286G>T MANE Select	NP_004919.1:p.Glu96Ter
NM_001271440.2:c.286G>T	NP_001258369.1:p.Glu96Ter
NM_001271441.2:c.286G>T	NP_001258370.1:p.Glu96Ter