Canonical Allele Identifier: CA410448557

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45750191G>T (hg19) ; chr21:g.44330308G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44330308G>T , CM000683.2:g.44330308G>T	GRCh38
NC_000021.8:g.45750191G>T , CM000683.1:g.45750191G>T	GRCh37
NC_000021.7:g.44574619G>T	NCBI36
NG_032952.1:g.14095C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.661C>A MANE Select	ENSP00000344566.4:p.Leu221Met
ENST00000325223.7:c.658C>A	ENSP00000317302.7:p.Leu220Met
ENST00000339818.8:c.661C>A	ENSP00000344566.4:p.Leu221Met
ENST00000397956.7:c.1018C>A	ENSP00000381047.3:p.Leu340Met
ENST00000462742.1:n.4115C>A
ENST00000470196.5:n.237C>A
ENST00000496321.5:n.774C>A
NM_001271440.1:c.658C>A	NP_001258369.1:p.Leu220Met
NM_001271441.1:c.1018C>A	NP_001258370.1:p.Leu340Met
NM_001271442.1:c.535C>A	NP_001258371.1:p.Leu179Met
NM_004928.2:c.661C>A	NP_004919.1:p.Leu221Met
XM_006724051.2:c.736C>A	XP_006724114.1:p.Leu246Met
XM_006724052.2:c.733C>A	XP_006724115.1:p.Leu245Met
XM_006724053.2:c.337C>A	XP_006724116.1:p.Leu113Met
XR_937571.1:n.1221C>A
XM_006724051.3:c.736C>A	XP_006724114.1:p.Leu246Met
XM_006724053.3:c.337C>A	XP_006724116.1:p.Leu113Met
XM_017028470.1:c.862C>A	XP_016883959.1:p.Leu288Met
XM_017028471.1:c.610C>A	XP_016883960.1:p.Leu204Met
XM_017028472.1:c.334C>A	XP_016883961.1:p.Leu112Met
XR_937571.2:n.1228C>A
NM_004928.3:c.661C>A MANE Select	NP_004919.1:p.Leu221Met
NM_001271440.2:c.658C>A	NP_001258369.1:p.Leu220Met
NM_001271441.2:c.1018C>A	NP_001258370.1:p.Leu340Met