Canonical Allele Identifier: CA512671026

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45753078T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333195T>G , CM000683.2:g.44333195T>G	GRCh38
NC_000021.8:g.45753078T>G , CM000683.1:g.45753078T>G	GRCh37
NC_000021.7:g.44577506T>G	NCBI36
NG_032952.1:g.11208A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.211A>C MANE Select	ENSP00000344566.4:p.Arg71=
ENST00000325223.7:c.211A>C	ENSP00000317302.7:p.Arg71=
ENST00000339818.8:c.211A>C	ENSP00000344566.4:p.Arg71=
ENST00000397956.7:c.211A>C	ENSP00000381047.3:p.Arg71=
ENST00000462742.1:n.2382A>C
ENST00000478674.1:n.270A>C
ENST00000496321.5:n.327A>C
NM_001271440.1:c.211A>C	NP_001258369.1:p.Arg71=
NM_001271441.1:c.211A>C	NP_001258370.1:p.Arg71=
NM_001271442.1:c.88A>C	NP_001258371.1:p.Arg30=
NM_004928.2:c.211A>C	NP_004919.1:p.Arg71=
XM_006724051.2:c.286A>C	XP_006724114.1:p.Arg96=
XM_006724052.2:c.286A>C	XP_006724115.1:p.Arg96=
XM_006724053.2:c.-114A>C	XP_006724116.1:n.-114A>C
XR_937571.1:n.414A>C
XM_006724051.3:c.286A>C	XP_006724114.1:p.Arg96=
XM_006724053.3:c.-114A>C	XP_006724116.1:n.-114A>C
XM_017028470.1:c.415A>C	XP_016883959.1:p.Arg139=
XM_017028471.1:c.160A>C	XP_016883960.1:p.Arg54=
XM_017028472.1:c.-114A>C	XP_016883961.1:n.-114A>C
XR_937571.2:n.421A>C
NM_004928.3:c.211A>C MANE Select	NP_004919.1:p.Arg71=
NM_001271440.2:c.211A>C	NP_001258369.1:p.Arg71=
NM_001271441.2:c.211A>C	NP_001258370.1:p.Arg71=