Canonical Allele Identifier: CA410456977

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45753039T>G (hg19) ; chr21:g.44333156T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333156T>G , CM000683.2:g.44333156T>G	GRCh38
NC_000021.8:g.45753039T>G , CM000683.1:g.45753039T>G	GRCh37
NC_000021.7:g.44577467T>G	NCBI36
NG_032952.1:g.11247A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.250A>C MANE Select	ENSP00000344566.4:p.Lys84Gln
ENST00000325223.7:c.250A>C	ENSP00000317302.7:p.Lys84Gln
ENST00000339818.8:c.250A>C	ENSP00000344566.4:p.Lys84Gln
ENST00000397956.7:c.250A>C	ENSP00000381047.3:p.Lys84Gln
ENST00000462742.1:n.2421A>C
ENST00000478674.1:n.309A>C
ENST00000496321.5:n.366A>C
NM_001271440.1:c.250A>C	NP_001258369.1:p.Lys84Gln
NM_001271441.1:c.250A>C	NP_001258370.1:p.Lys84Gln
NM_001271442.1:c.127A>C	NP_001258371.1:p.Lys43Gln
NM_004928.2:c.250A>C	NP_004919.1:p.Lys84Gln
XM_006724051.2:c.325A>C	XP_006724114.1:p.Lys109Gln
XM_006724052.2:c.325A>C	XP_006724115.1:p.Lys109Gln
XM_006724053.2:c.-75A>C	XP_006724116.1:n.-75A>C
XR_937571.1:n.453A>C
XM_006724051.3:c.325A>C	XP_006724114.1:p.Lys109Gln
XM_006724053.3:c.-75A>C	XP_006724116.1:n.-75A>C
XM_017028470.1:c.454A>C	XP_016883959.1:p.Lys152Gln
XM_017028471.1:c.199A>C	XP_016883960.1:p.Lys67Gln
XM_017028472.1:c.-75A>C	XP_016883961.1:n.-75A>C
XR_937571.2:n.460A>C
NM_004928.3:c.250A>C MANE Select	NP_004919.1:p.Lys84Gln
NM_001271440.2:c.250A>C	NP_001258369.1:p.Lys84Gln
NM_001271441.2:c.250A>C	NP_001258370.1:p.Lys84Gln