Canonical Allele Identifier: CA410457295

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45753083A>C (hg19) ; chr21:g.44333200A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333200A>C , CM000683.2:g.44333200A>C	GRCh38
NC_000021.8:g.45753083A>C , CM000683.1:g.45753083A>C	GRCh37
NC_000021.7:g.44577511A>C	NCBI36
NG_032952.1:g.11203T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.206T>G MANE Select	ENSP00000344566.4:p.Leu69Arg
ENST00000325223.7:c.206T>G	ENSP00000317302.7:p.Leu69Arg
ENST00000339818.8:c.206T>G	ENSP00000344566.4:p.Leu69Arg
ENST00000397956.7:c.206T>G	ENSP00000381047.3:p.Leu69Arg
ENST00000462742.1:n.2377T>G
ENST00000478674.1:n.265T>G
ENST00000496321.5:n.322T>G
NM_001271440.1:c.206T>G	NP_001258369.1:p.Leu69Arg
NM_001271441.1:c.206T>G	NP_001258370.1:p.Leu69Arg
NM_001271442.1:c.83T>G	NP_001258371.1:p.Leu28Arg
NM_004928.2:c.206T>G	NP_004919.1:p.Leu69Arg
XM_006724051.2:c.281T>G	XP_006724114.1:p.Leu94Arg
XM_006724052.2:c.281T>G	XP_006724115.1:p.Leu94Arg
XM_006724053.2:c.-119T>G	XP_006724116.1:n.-119T>G
XR_937571.1:n.409T>G
XM_006724051.3:c.281T>G	XP_006724114.1:p.Leu94Arg
XM_006724053.3:c.-119T>G	XP_006724116.1:n.-119T>G
XM_017028470.1:c.410T>G	XP_016883959.1:p.Leu137Arg
XM_017028471.1:c.155T>G	XP_016883960.1:p.Leu52Arg
XM_017028472.1:c.-119T>G	XP_016883961.1:n.-119T>G
XR_937571.2:n.416T>G
NM_004928.3:c.206T>G MANE Select	NP_004919.1:p.Leu69Arg
NM_001271440.2:c.206T>G	NP_001258369.1:p.Leu69Arg
NM_001271441.2:c.206T>G	NP_001258370.1:p.Leu69Arg