Canonical Allele Identifier: CA512670962
Gene: CFAP410 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45753033G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44333150G>A , CM000683.2:g.44333150G>A GRCh38
NC_000021.8:g.45753033G>A , CM000683.1:g.45753033G>A GRCh37
NC_000021.7:g.44577461G>A NCBI36
NG_032952.1:g.11253C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339818.9:c.256C>T MANE Select ENSP00000344566.4:p.Leu86=
ENST00000325223.7:c.256C>T ENSP00000317302.7:p.Leu86=
ENST00000339818.8:c.256C>T ENSP00000344566.4:p.Leu86=
ENST00000397956.7:c.256C>T ENSP00000381047.3:p.Leu86=
ENST00000462742.1:n.2427C>T
ENST00000478674.1:n.315C>T
ENST00000496321.5:n.372C>T
NM_001271440.1:c.256C>T NP_001258369.1:p.Leu86=
NM_001271441.1:c.256C>T NP_001258370.1:p.Leu86=
NM_001271442.1:c.133C>T NP_001258371.1:p.Leu45=
NM_004928.2:c.256C>T NP_004919.1:p.Leu86=
XM_006724051.2:c.331C>T XP_006724114.1:p.Leu111=
XM_006724052.2:c.331C>T XP_006724115.1:p.Leu111=
XM_006724053.2:c.-69C>T XP_006724116.1:n.-69C>T
XR_937571.1:n.459C>T
XM_006724051.3:c.331C>T XP_006724114.1:p.Leu111=
XM_006724053.3:c.-69C>T XP_006724116.1:n.-69C>T
XM_017028470.1:c.460C>T XP_016883959.1:p.Leu154=
XM_017028471.1:c.205C>T XP_016883960.1:p.Leu69=
XM_017028472.1:c.-69C>T XP_016883961.1:n.-69C>T
XR_937571.2:n.466C>T
NM_004928.3:c.256C>T MANE Select NP_004919.1:p.Leu86=
NM_001271440.2:c.256C>T NP_001258369.1:p.Leu86=
NM_001271441.2:c.256C>T NP_001258370.1:p.Leu86=