Canonical Allele Identifier: CA512670923
Gene: CFAP410 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45753016C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44333133C>G , CM000683.2:g.44333133C>G GRCh38
NC_000021.8:g.45753016C>G , CM000683.1:g.45753016C>G GRCh37
NC_000021.7:g.44577444C>G NCBI36
NG_032952.1:g.11270G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000339818.9:c.273G>C MANE Select ENSP00000344566.4:p.Val91=
ENST00000325223.7:c.273G>C ENSP00000317302.7:p.Val91=
ENST00000339818.8:c.273G>C ENSP00000344566.4:p.Val91=
ENST00000397956.7:c.273G>C ENSP00000381047.3:p.Val91=
ENST00000462742.1:n.2444G>C
ENST00000478674.1:n.332G>C
ENST00000496321.5:n.389G>C
NM_001271440.1:c.273G>C NP_001258369.1:p.Val91=
NM_001271441.1:c.273G>C NP_001258370.1:p.Val91=
NM_001271442.1:c.150G>C NP_001258371.1:p.Val50=
NM_004928.2:c.273G>C NP_004919.1:p.Val91=
XM_006724051.2:c.348G>C XP_006724114.1:p.Val116=
XM_006724052.2:c.348G>C XP_006724115.1:p.Val116=
XM_006724053.2:c.-52G>C XP_006724116.1:n.-52G>C
XR_937571.1:n.476G>C
XM_006724051.3:c.348G>C XP_006724114.1:p.Val116=
XM_006724053.3:c.-52G>C XP_006724116.1:n.-52G>C
XM_017028470.1:c.477G>C XP_016883959.1:p.Val159=
XM_017028471.1:c.222G>C XP_016883960.1:p.Val74=
XM_017028472.1:c.-52G>C XP_016883961.1:n.-52G>C
XR_937571.2:n.483G>C
NM_004928.3:c.273G>C MANE Select NP_004919.1:p.Val91=
NM_001271440.2:c.273G>C NP_001258369.1:p.Val91=
NM_001271441.2:c.273G>C NP_001258370.1:p.Val91=