Canonical Allele Identifier: CA512670920

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45753013C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333130C>G , CM000683.2:g.44333130C>G	GRCh38
NC_000021.8:g.45753013C>G , CM000683.1:g.45753013C>G	GRCh37
NC_000021.7:g.44577441C>G	NCBI36
NG_032952.1:g.11273G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.276G>C MANE Select	ENSP00000344566.4:p.Leu92=
ENST00000325223.7:c.276G>C	ENSP00000317302.7:p.Leu92=
ENST00000339818.8:c.276G>C	ENSP00000344566.4:p.Leu92=
ENST00000397956.7:c.276G>C	ENSP00000381047.3:p.Leu92=
ENST00000462742.1:n.2447G>C
ENST00000478674.1:n.335G>C
ENST00000496321.5:n.392G>C
NM_001271440.1:c.276G>C	NP_001258369.1:p.Leu92=
NM_001271441.1:c.276G>C	NP_001258370.1:p.Leu92=
NM_001271442.1:c.153G>C	NP_001258371.1:p.Leu51=
NM_004928.2:c.276G>C	NP_004919.1:p.Leu92=
XM_006724051.2:c.351G>C	XP_006724114.1:p.Leu117=
XM_006724052.2:c.351G>C	XP_006724115.1:p.Leu117=
XM_006724053.2:c.-49G>C	XP_006724116.1:n.-49G>C
XR_937571.1:n.479G>C
XM_006724051.3:c.351G>C	XP_006724114.1:p.Leu117=
XM_006724053.3:c.-49G>C	XP_006724116.1:n.-49G>C
XM_017028470.1:c.480G>C	XP_016883959.1:p.Leu160=
XM_017028471.1:c.225G>C	XP_016883960.1:p.Leu75=
XM_017028472.1:c.-49G>C	XP_016883961.1:n.-49G>C
XR_937571.2:n.486G>C
NM_004928.3:c.276G>C MANE Select	NP_004919.1:p.Leu92=
NM_001271440.2:c.276G>C	NP_001258369.1:p.Leu92=
NM_001271441.2:c.276G>C	NP_001258370.1:p.Leu92=