Canonical Allele Identifier: CA410457649

Gene: CFAP410

Linked Data

• dbSNP Id: rs1602080307
• MyVariant Identifiers: chr21:g.45753129T>G (hg19) ; chr21:g.44333246T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333246T>G , CM000683.2:g.44333246T>G	GRCh38
NC_000021.8:g.45753129T>G , CM000683.1:g.45753129T>G	GRCh37
NC_000021.7:g.44577557T>G	NCBI36
NG_032952.1:g.11157A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.160A>C MANE Select	ENSP00000344566.4:p.Thr54Pro
ENST00000325223.7:c.160A>C	ENSP00000317302.7:p.Thr54Pro
ENST00000339818.8:c.160A>C	ENSP00000344566.4:p.Thr54Pro
ENST00000397956.7:c.160A>C	ENSP00000381047.3:p.Thr54Pro
ENST00000462742.1:n.2331A>C
ENST00000478674.1:n.219A>C
ENST00000496321.5:n.276A>C
NM_001271440.1:c.160A>C	NP_001258369.1:p.Thr54Pro
NM_001271441.1:c.160A>C	NP_001258370.1:p.Thr54Pro
NM_001271442.1:c.37A>C	NP_001258371.1:p.Thr13Pro
NM_004928.2:c.160A>C	NP_004919.1:p.Thr54Pro
XM_006724051.2:c.235A>C	XP_006724114.1:p.Thr79Pro
XM_006724052.2:c.235A>C	XP_006724115.1:p.Thr79Pro
XM_006724053.2:c.-165A>C	XP_006724116.1:n.-165A>C
XR_937571.1:n.363A>C
XM_006724051.3:c.235A>C	XP_006724114.1:p.Thr79Pro
XM_006724053.3:c.-165A>C	XP_006724116.1:n.-165A>C
XM_017028470.1:c.364A>C	XP_016883959.1:p.Thr122Pro
XM_017028471.1:c.109A>C	XP_016883960.1:p.Thr37Pro
XM_017028472.1:c.-165A>C	XP_016883961.1:n.-165A>C
XR_937571.2:n.370A>C
NM_004928.3:c.160A>C MANE Select	NP_004919.1:p.Thr54Pro
NM_001271440.2:c.160A>C	NP_001258369.1:p.Thr54Pro
NM_001271441.2:c.160A>C	NP_001258370.1:p.Thr54Pro