Canonical Allele Identifier: CA512670502

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 2413850
• ClinVar RCV Id: RCV003104646
• MyVariant Identifiers: chr21:g.45750192G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44330309G>A , CM000683.2:g.44330309G>A	GRCh38
NC_000021.8:g.45750192G>A , CM000683.1:g.45750192G>A	GRCh37
NC_000021.7:g.44574620G>A	NCBI36
NG_032952.1:g.14094C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.660C>T MANE Select	ENSP00000344566.4:p.Ile220=
ENST00000325223.7:c.657C>T	ENSP00000317302.7:p.Ile219=
ENST00000339818.8:c.660C>T	ENSP00000344566.4:p.Ile220=
ENST00000397956.7:c.1017C>T	ENSP00000381047.3:p.Ile339=
ENST00000462742.1:n.4114C>T
ENST00000470196.5:n.236C>T
ENST00000496321.5:n.773C>T
NM_001271440.1:c.657C>T	NP_001258369.1:p.Ile219=
NM_001271441.1:c.1017C>T	NP_001258370.1:p.Ile339=
NM_001271442.1:c.534C>T	NP_001258371.1:p.Ile178=
NM_004928.2:c.660C>T	NP_004919.1:p.Ile220=
XM_006724051.2:c.735C>T	XP_006724114.1:p.Ile245=
XM_006724052.2:c.732C>T	XP_006724115.1:p.Ile244=
XM_006724053.2:c.336C>T	XP_006724116.1:p.Ile112=
XR_937571.1:n.1220C>T
XM_006724051.3:c.735C>T	XP_006724114.1:p.Ile245=
XM_006724053.3:c.336C>T	XP_006724116.1:p.Ile112=
XM_017028470.1:c.861C>T	XP_016883959.1:p.Ile287=
XM_017028471.1:c.609C>T	XP_016883960.1:p.Ile203=
XM_017028472.1:c.333C>T	XP_016883961.1:p.Ile111=
XR_937571.2:n.1227C>T
NM_004928.3:c.660C>T MANE Select	NP_004919.1:p.Ile220=
NM_001271440.2:c.657C>T	NP_001258369.1:p.Ile219=
NM_001271441.2:c.1017C>T	NP_001258370.1:p.Ile339=