Canonical Allele Identifier: CA512670483

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45750186C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44330303C>A , CM000683.2:g.44330303C>A	GRCh38
NC_000021.8:g.45750186C>A , CM000683.1:g.45750186C>A	GRCh37
NC_000021.7:g.44574614C>A	NCBI36
NG_032952.1:g.14100G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.666G>T MANE Select	ENSP00000344566.4:p.Leu222=
ENST00000325223.7:c.663G>T	ENSP00000317302.7:p.Leu221=
ENST00000339818.8:c.666G>T	ENSP00000344566.4:p.Leu222=
ENST00000397956.7:c.1023G>T	ENSP00000381047.3:p.Leu341=
ENST00000462742.1:n.4120G>T
ENST00000470196.5:n.242G>T
ENST00000496321.5:n.779G>T
NM_001271440.1:c.663G>T	NP_001258369.1:p.Leu221=
NM_001271441.1:c.1023G>T	NP_001258370.1:p.Leu341=
NM_001271442.1:c.540G>T	NP_001258371.1:p.Leu180=
NM_004928.2:c.666G>T	NP_004919.1:p.Leu222=
XM_006724051.2:c.741G>T	XP_006724114.1:p.Leu247=
XM_006724052.2:c.738G>T	XP_006724115.1:p.Leu246=
XM_006724053.2:c.342G>T	XP_006724116.1:p.Leu114=
XR_937571.1:n.1226G>T
XM_006724051.3:c.741G>T	XP_006724114.1:p.Leu247=
XM_006724053.3:c.342G>T	XP_006724116.1:p.Leu114=
XM_017028470.1:c.867G>T	XP_016883959.1:p.Leu289=
XM_017028471.1:c.615G>T	XP_016883960.1:p.Leu205=
XM_017028472.1:c.339G>T	XP_016883961.1:p.Leu113=
XR_937571.2:n.1233G>T
NM_004928.3:c.666G>T MANE Select	NP_004919.1:p.Leu222=
NM_001271440.2:c.663G>T	NP_001258369.1:p.Leu221=
NM_001271441.2:c.1023G>T	NP_001258370.1:p.Leu341=