Canonical Allele Identifier: CA512671107
Gene: CFAP410 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45753118A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44333235A>C , CM000683.2:g.44333235A>C GRCh38
NC_000021.8:g.45753118A>C , CM000683.1:g.45753118A>C GRCh37
NC_000021.7:g.44577546A>C NCBI36
NG_032952.1:g.11168T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000339818.9:c.171T>G MANE Select ENSP00000344566.4:p.Pro57=
ENST00000325223.7:c.171T>G ENSP00000317302.7:p.Pro57=
ENST00000339818.8:c.171T>G ENSP00000344566.4:p.Pro57=
ENST00000397956.7:c.171T>G ENSP00000381047.3:p.Pro57=
ENST00000462742.1:n.2342T>G
ENST00000478674.1:n.230T>G
ENST00000496321.5:n.287T>G
NM_001271440.1:c.171T>G NP_001258369.1:p.Pro57=
NM_001271441.1:c.171T>G NP_001258370.1:p.Pro57=
NM_001271442.1:c.48T>G NP_001258371.1:p.Pro16=
NM_004928.2:c.171T>G NP_004919.1:p.Pro57=
XM_006724051.2:c.246T>G XP_006724114.1:p.Pro82=
XM_006724052.2:c.246T>G XP_006724115.1:p.Pro82=
XM_006724053.2:c.-154T>G XP_006724116.1:n.-154T>G
XR_937571.1:n.374T>G
XM_006724051.3:c.246T>G XP_006724114.1:p.Pro82=
XM_006724053.3:c.-154T>G XP_006724116.1:n.-154T>G
XM_017028470.1:c.375T>G XP_016883959.1:p.Pro125=
XM_017028471.1:c.120T>G XP_016883960.1:p.Pro40=
XM_017028472.1:c.-154T>G XP_016883961.1:n.-154T>G
XR_937571.2:n.381T>G
NM_004928.3:c.171T>G MANE Select NP_004919.1:p.Pro57=
NM_001271440.2:c.171T>G NP_001258369.1:p.Pro57=
NM_001271441.2:c.171T>G NP_001258370.1:p.Pro57=