Canonical Allele Identifier: CA512670943
Gene: CFAP410 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45753025A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44333142A>C , CM000683.2:g.44333142A>C GRCh38
NC_000021.8:g.45753025A>C , CM000683.1:g.45753025A>C GRCh37
NC_000021.7:g.44577453A>C NCBI36
NG_032952.1:g.11261T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000339818.9:c.264T>G MANE Select ENSP00000344566.4:p.Arg88=
ENST00000325223.7:c.264T>G ENSP00000317302.7:p.Arg88=
ENST00000339818.8:c.264T>G ENSP00000344566.4:p.Arg88=
ENST00000397956.7:c.264T>G ENSP00000381047.3:p.Arg88=
ENST00000462742.1:n.2435T>G
ENST00000478674.1:n.323T>G
ENST00000496321.5:n.380T>G
NM_001271440.1:c.264T>G NP_001258369.1:p.Arg88=
NM_001271441.1:c.264T>G NP_001258370.1:p.Arg88=
NM_001271442.1:c.141T>G NP_001258371.1:p.Arg47=
NM_004928.2:c.264T>G NP_004919.1:p.Arg88=
XM_006724051.2:c.339T>G XP_006724114.1:p.Arg113=
XM_006724052.2:c.339T>G XP_006724115.1:p.Arg113=
XM_006724053.2:c.-61T>G XP_006724116.1:n.-61T>G
XR_937571.1:n.467T>G
XM_006724051.3:c.339T>G XP_006724114.1:p.Arg113=
XM_006724053.3:c.-61T>G XP_006724116.1:n.-61T>G
XM_017028470.1:c.468T>G XP_016883959.1:p.Arg156=
XM_017028471.1:c.213T>G XP_016883960.1:p.Arg71=
XM_017028472.1:c.-61T>G XP_016883961.1:n.-61T>G
XR_937571.2:n.474T>G
NM_004928.3:c.264T>G MANE Select NP_004919.1:p.Arg88=
NM_001271440.2:c.264T>G NP_001258369.1:p.Arg88=
NM_001271441.2:c.264T>G NP_001258370.1:p.Arg88=