Canonical Allele Identifier: CA512670850

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45752953C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333070C>G , CM000683.2:g.44333070C>G	GRCh38
NC_000021.8:g.45752953C>G , CM000683.1:g.45752953C>G	GRCh37
NC_000021.7:g.44577381C>G	NCBI36
NG_032952.1:g.11333G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.336G>C MANE Select	ENSP00000344566.4:p.Leu112=
ENST00000325223.7:c.336G>C	ENSP00000317302.7:p.Leu112=
ENST00000339818.8:c.336G>C	ENSP00000344566.4:p.Leu112=
ENST00000397956.7:c.336G>C	ENSP00000381047.3:p.Leu112=
ENST00000462742.1:n.2507G>C
ENST00000478674.1:n.395G>C
ENST00000496321.5:n.452G>C
NM_001271440.1:c.336G>C	NP_001258369.1:p.Leu112=
NM_001271441.1:c.336G>C	NP_001258370.1:p.Leu112=
NM_001271442.1:c.213G>C	NP_001258371.1:p.Leu71=
NM_004928.2:c.336G>C	NP_004919.1:p.Leu112=
XM_006724051.2:c.411G>C	XP_006724114.1:p.Leu137=
XM_006724052.2:c.411G>C	XP_006724115.1:p.Leu137=
XM_006724053.2:c.12G>C	XP_006724116.1:p.Leu4=
XR_937571.1:n.539G>C
XM_006724051.3:c.411G>C	XP_006724114.1:p.Leu137=
XM_006724053.3:c.12G>C	XP_006724116.1:p.Leu4=
XM_017028470.1:c.540G>C	XP_016883959.1:p.Leu180=
XM_017028471.1:c.285G>C	XP_016883960.1:p.Leu95=
XM_017028472.1:c.12G>C	XP_016883961.1:p.Leu4=
XR_937571.2:n.546G>C
NM_004928.3:c.336G>C MANE Select	NP_004919.1:p.Leu112=
NM_001271440.2:c.336G>C	NP_001258369.1:p.Leu112=
NM_001271441.2:c.336G>C	NP_001258370.1:p.Leu112=