Canonical Allele Identifier: CA410448561

Gene: CFAP410

Linked Data

• gnomAD v4: 21-44330310-A-G
• MyVariant Identifiers: chr21:g.45750193A>G (hg19) ; chr21:g.44330310A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44330310A>G , CM000683.2:g.44330310A>G	GRCh38
NC_000021.8:g.45750193A>G , CM000683.1:g.45750193A>G	GRCh37
NC_000021.7:g.44574621A>G	NCBI36
NG_032952.1:g.14093T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.659T>C MANE Select	ENSP00000344566.4:p.Ile220Thr
ENST00000325223.7:c.656T>C	ENSP00000317302.7:p.Ile219Thr
ENST00000339818.8:c.659T>C	ENSP00000344566.4:p.Ile220Thr
ENST00000397956.7:c.1016T>C	ENSP00000381047.3:p.Ile339Thr
ENST00000462742.1:n.4113T>C
ENST00000470196.5:n.235T>C
ENST00000496321.5:n.772T>C
NM_001271440.1:c.656T>C	NP_001258369.1:p.Ile219Thr
NM_001271441.1:c.1016T>C	NP_001258370.1:p.Ile339Thr
NM_001271442.1:c.533T>C	NP_001258371.1:p.Ile178Thr
NM_004928.2:c.659T>C	NP_004919.1:p.Ile220Thr
XM_006724051.2:c.734T>C	XP_006724114.1:p.Ile245Thr
XM_006724052.2:c.731T>C	XP_006724115.1:p.Ile244Thr
XM_006724053.2:c.335T>C	XP_006724116.1:p.Ile112Thr
XR_937571.1:n.1219T>C
XM_006724051.3:c.734T>C	XP_006724114.1:p.Ile245Thr
XM_006724053.3:c.335T>C	XP_006724116.1:p.Ile112Thr
XM_017028470.1:c.860T>C	XP_016883959.1:p.Ile287Thr
XM_017028471.1:c.608T>C	XP_016883960.1:p.Ile203Thr
XM_017028472.1:c.332T>C	XP_016883961.1:p.Ile111Thr
XR_937571.2:n.1226T>C
NM_004928.3:c.659T>C MANE Select	NP_004919.1:p.Ile220Thr
NM_001271440.2:c.656T>C	NP_001258369.1:p.Ile219Thr
NM_001271441.2:c.1016T>C	NP_001258370.1:p.Ile339Thr