Canonical Allele Identifier: CA410448556

Gene: CFAP410

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.661C>G MANE Select	ENSP00000344566.4:p.Leu221Val
ENST00000325223.7:c.658C>G	ENSP00000317302.7:p.Leu220Val
ENST00000339818.8:c.661C>G	ENSP00000344566.4:p.Leu221Val
ENST00000397956.7:c.1018C>G	ENSP00000381047.3:p.Leu340Val
ENST00000462742.1:n.4115C>G
ENST00000470196.5:n.237C>G
ENST00000496321.5:n.774C>G
NM_001271440.1:c.658C>G	NP_001258369.1:p.Leu220Val
NM_001271441.1:c.1018C>G	NP_001258370.1:p.Leu340Val
NM_001271442.1:c.535C>G	NP_001258371.1:p.Leu179Val
NM_004928.2:c.661C>G	NP_004919.1:p.Leu221Val
XM_006724051.2:c.736C>G	XP_006724114.1:p.Leu246Val
XM_006724052.2:c.733C>G	XP_006724115.1:p.Leu245Val
XM_006724053.2:c.337C>G	XP_006724116.1:p.Leu113Val
XR_937571.1:n.1221C>G
XM_006724051.3:c.736C>G	XP_006724114.1:p.Leu246Val
XM_006724053.3:c.337C>G	XP_006724116.1:p.Leu113Val
XM_017028470.1:c.862C>G	XP_016883959.1:p.Leu288Val
XM_017028471.1:c.610C>G	XP_016883960.1:p.Leu204Val
XM_017028472.1:c.334C>G	XP_016883961.1:p.Leu112Val
XR_937571.2:n.1228C>G
NM_004928.3:c.661C>G MANE Select	NP_004919.1:p.Leu221Val
NM_001271440.2:c.658C>G	NP_001258369.1:p.Leu220Val
NM_001271441.2:c.1018C>G	NP_001258370.1:p.Leu340Val