Canonical Allele Identifier: CA512670830

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45752935T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333052T>A , CM000683.2:g.44333052T>A	GRCh38
NC_000021.8:g.45752935T>A , CM000683.1:g.45752935T>A	GRCh37
NC_000021.7:g.44577363T>A	NCBI36
NG_032952.1:g.11351A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.354A>T MANE Select	ENSP00000344566.4:p.Leu118=
ENST00000325223.7:c.354A>T	ENSP00000317302.7:p.Leu118=
ENST00000339818.8:c.354A>T	ENSP00000344566.4:p.Leu118=
ENST00000397956.7:c.354A>T	ENSP00000381047.3:p.Leu118=
ENST00000462742.1:n.2525A>T
ENST00000478674.1:n.413A>T
ENST00000496321.5:n.470A>T
NM_001271440.1:c.354A>T	NP_001258369.1:p.Leu118=
NM_001271441.1:c.354A>T	NP_001258370.1:p.Leu118=
NM_001271442.1:c.231A>T	NP_001258371.1:p.Leu77=
NM_004928.2:c.354A>T	NP_004919.1:p.Leu118=
XM_006724051.2:c.429A>T	XP_006724114.1:p.Leu143=
XM_006724052.2:c.429A>T	XP_006724115.1:p.Leu143=
XM_006724053.2:c.30A>T	XP_006724116.1:p.Leu10=
XR_937571.1:n.557A>T
XM_006724051.3:c.429A>T	XP_006724114.1:p.Leu143=
XM_006724053.3:c.30A>T	XP_006724116.1:p.Leu10=
XM_017028470.1:c.558A>T	XP_016883959.1:p.Leu186=
XM_017028471.1:c.303A>T	XP_016883960.1:p.Leu101=
XM_017028472.1:c.30A>T	XP_016883961.1:p.Leu10=
XR_937571.2:n.564A>T
NM_004928.3:c.354A>T MANE Select	NP_004919.1:p.Leu118=
NM_001271440.2:c.354A>T	NP_001258369.1:p.Leu118=
NM_001271441.2:c.354A>T	NP_001258370.1:p.Leu118=