Canonical Allele Identifier: CA410456161

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45752923G>C (hg19) ; chr21:g.44333040G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333040G>C , CM000683.2:g.44333040G>C	GRCh38
NC_000021.8:g.45752923G>C , CM000683.1:g.45752923G>C	GRCh37
NC_000021.7:g.44577351G>C	NCBI36
NG_032952.1:g.11363C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.366C>G MANE Select	ENSP00000344566.4:p.Asp122Glu
ENST00000325223.7:c.366C>G	ENSP00000317302.7:p.Asp122Glu
ENST00000339818.8:c.366C>G	ENSP00000344566.4:p.Asp122Glu
ENST00000397956.7:c.366C>G	ENSP00000381047.3:p.Asp122Glu
ENST00000462742.1:n.2537C>G
ENST00000478674.1:n.425C>G
ENST00000496321.5:n.482C>G
NM_001271440.1:c.366C>G	NP_001258369.1:p.Asp122Glu
NM_001271441.1:c.366C>G	NP_001258370.1:p.Asp122Glu
NM_001271442.1:c.243C>G	NP_001258371.1:p.Asp81Glu
NM_004928.2:c.366C>G	NP_004919.1:p.Asp122Glu
XM_006724051.2:c.441C>G	XP_006724114.1:p.Asp147Glu
XM_006724052.2:c.441C>G	XP_006724115.1:p.Asp147Glu
XM_006724053.2:c.42C>G	XP_006724116.1:p.Asp14Glu
XR_937571.1:n.569C>G
XM_006724051.3:c.441C>G	XP_006724114.1:p.Asp147Glu
XM_006724053.3:c.42C>G	XP_006724116.1:p.Asp14Glu
XM_017028470.1:c.570C>G	XP_016883959.1:p.Asp190Glu
XM_017028471.1:c.315C>G	XP_016883960.1:p.Asp105Glu
XM_017028472.1:c.42C>G	XP_016883961.1:p.Asp14Glu
XR_937571.2:n.576C>G
NM_004928.3:c.366C>G MANE Select	NP_004919.1:p.Asp122Glu
NM_001271440.2:c.366C>G	NP_001258369.1:p.Asp122Glu
NM_001271441.2:c.366C>G	NP_001258370.1:p.Asp122Glu