Canonical Allele Identifier: CA512670984

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45753049G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333166G>A , CM000683.2:g.44333166G>A	GRCh38
NC_000021.8:g.45753049G>A , CM000683.1:g.45753049G>A	GRCh37
NC_000021.7:g.44577477G>A	NCBI36
NG_032952.1:g.11237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.240C>T MANE Select	ENSP00000344566.4:p.Leu80=
ENST00000325223.7:c.240C>T	ENSP00000317302.7:p.Leu80=
ENST00000339818.8:c.240C>T	ENSP00000344566.4:p.Leu80=
ENST00000397956.7:c.240C>T	ENSP00000381047.3:p.Leu80=
ENST00000462742.1:n.2411C>T
ENST00000478674.1:n.299C>T
ENST00000496321.5:n.356C>T
NM_001271440.1:c.240C>T	NP_001258369.1:p.Leu80=
NM_001271441.1:c.240C>T	NP_001258370.1:p.Leu80=
NM_001271442.1:c.117C>T	NP_001258371.1:p.Leu39=
NM_004928.2:c.240C>T	NP_004919.1:p.Leu80=
XM_006724051.2:c.315C>T	XP_006724114.1:p.Leu105=
XM_006724052.2:c.315C>T	XP_006724115.1:p.Leu105=
XM_006724053.2:c.-85C>T	XP_006724116.1:n.-85C>T
XR_937571.1:n.443C>T
XM_006724051.3:c.315C>T	XP_006724114.1:p.Leu105=
XM_006724053.3:c.-85C>T	XP_006724116.1:n.-85C>T
XM_017028470.1:c.444C>T	XP_016883959.1:p.Leu148=
XM_017028471.1:c.189C>T	XP_016883960.1:p.Leu63=
XM_017028472.1:c.-85C>T	XP_016883961.1:n.-85C>T
XR_937571.2:n.450C>T
NM_004928.3:c.240C>T MANE Select	NP_004919.1:p.Leu80=
NM_001271440.2:c.240C>T	NP_001258369.1:p.Leu80=
NM_001271441.2:c.240C>T	NP_001258370.1:p.Leu80=