Canonical Allele Identifier: CA410456218

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45752936A>T (hg19) ; chr21:g.44333053A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333053A>T , CM000683.2:g.44333053A>T	GRCh38
NC_000021.8:g.45752936A>T , CM000683.1:g.45752936A>T	GRCh37
NC_000021.7:g.44577364A>T	NCBI36
NG_032952.1:g.11350T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.353T>A MANE Select	ENSP00000344566.4:p.Leu118Gln
ENST00000325223.7:c.353T>A	ENSP00000317302.7:p.Leu118Gln
ENST00000339818.8:c.353T>A	ENSP00000344566.4:p.Leu118Gln
ENST00000397956.7:c.353T>A	ENSP00000381047.3:p.Leu118Gln
ENST00000462742.1:n.2524T>A
ENST00000478674.1:n.412T>A
ENST00000496321.5:n.469T>A
NM_001271440.1:c.353T>A	NP_001258369.1:p.Leu118Gln
NM_001271441.1:c.353T>A	NP_001258370.1:p.Leu118Gln
NM_001271442.1:c.230T>A	NP_001258371.1:p.Leu77Gln
NM_004928.2:c.353T>A	NP_004919.1:p.Leu118Gln
XM_006724051.2:c.428T>A	XP_006724114.1:p.Leu143Gln
XM_006724052.2:c.428T>A	XP_006724115.1:p.Leu143Gln
XM_006724053.2:c.29T>A	XP_006724116.1:p.Leu10Gln
XR_937571.1:n.556T>A
XM_006724051.3:c.428T>A	XP_006724114.1:p.Leu143Gln
XM_006724053.3:c.29T>A	XP_006724116.1:p.Leu10Gln
XM_017028470.1:c.557T>A	XP_016883959.1:p.Leu186Gln
XM_017028471.1:c.302T>A	XP_016883960.1:p.Leu101Gln
XM_017028472.1:c.29T>A	XP_016883961.1:p.Leu10Gln
XR_937571.2:n.563T>A
NM_004928.3:c.353T>A MANE Select	NP_004919.1:p.Leu118Gln
NM_001271440.2:c.353T>A	NP_001258369.1:p.Leu118Gln
NM_001271441.2:c.353T>A	NP_001258370.1:p.Leu118Gln