Canonical Allele Identifier: CA512670885
Gene: CFAP410 HGNC NCBI

Linked Data

dbSNP Id: rs2047682325
MyVariant Identifiers: chr21:g.45752983G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44333100G>C , CM000683.2:g.44333100G>C GRCh38
NC_000021.8:g.45752983G>C , CM000683.1:g.45752983G>C GRCh37
NC_000021.7:g.44577411G>C NCBI36
NG_032952.1:g.11303C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000339818.9:c.306C>G MANE Select ENSP00000344566.4:p.Thr102=
ENST00000325223.7:c.306C>G ENSP00000317302.7:p.Thr102=
ENST00000339818.8:c.306C>G ENSP00000344566.4:p.Thr102=
ENST00000397956.7:c.306C>G ENSP00000381047.3:p.Thr102=
ENST00000462742.1:n.2477C>G
ENST00000478674.1:n.365C>G
ENST00000496321.5:n.422C>G
NM_001271440.1:c.306C>G NP_001258369.1:p.Thr102=
NM_001271441.1:c.306C>G NP_001258370.1:p.Thr102=
NM_001271442.1:c.183C>G NP_001258371.1:p.Thr61=
NM_004928.2:c.306C>G NP_004919.1:p.Thr102=
XM_006724051.2:c.381C>G XP_006724114.1:p.Thr127=
XM_006724052.2:c.381C>G XP_006724115.1:p.Thr127=
XM_006724053.2:c.-19C>G XP_006724116.1:n.-19C>G
XR_937571.1:n.509C>G
XM_006724051.3:c.381C>G XP_006724114.1:p.Thr127=
XM_006724053.3:c.-19C>G XP_006724116.1:n.-19C>G
XM_017028470.1:c.510C>G XP_016883959.1:p.Thr170=
XM_017028471.1:c.255C>G XP_016883960.1:p.Thr85=
XM_017028472.1:c.-19C>G XP_016883961.1:n.-19C>G
XR_937571.2:n.516C>G
NM_004928.3:c.306C>G MANE Select NP_004919.1:p.Thr102=
NM_001271440.2:c.306C>G NP_001258369.1:p.Thr102=
NM_001271441.2:c.306C>G NP_001258370.1:p.Thr102=