Canonical Allele Identifier: CA410456834

Gene: CFAP410

Linked Data

• dbSNP Id: rs1478238734
• gnomAD v2: 21-45753023-A-G
• gnomAD v4: 21-44333140-A-G
• MyVariant Identifiers: chr21:g.45753023A>G (hg19) ; chr21:g.44333140A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333140A>G , CM000683.2:g.44333140A>G	GRCh38
NC_000021.8:g.45753023A>G , CM000683.1:g.45753023A>G	GRCh37
NC_000021.7:g.44577451A>G	NCBI36
NG_032952.1:g.11263T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.266T>C MANE Select	ENSP00000344566.4:p.Leu89Pro
ENST00000325223.7:c.266T>C	ENSP00000317302.7:p.Leu89Pro
ENST00000339818.8:c.266T>C	ENSP00000344566.4:p.Leu89Pro
ENST00000397956.7:c.266T>C	ENSP00000381047.3:p.Leu89Pro
ENST00000462742.1:n.2437T>C
ENST00000478674.1:n.325T>C
ENST00000496321.5:n.382T>C
NM_001271440.1:c.266T>C	NP_001258369.1:p.Leu89Pro
NM_001271441.1:c.266T>C	NP_001258370.1:p.Leu89Pro
NM_001271442.1:c.143T>C	NP_001258371.1:p.Leu48Pro
NM_004928.2:c.266T>C	NP_004919.1:p.Leu89Pro
XM_006724051.2:c.341T>C	XP_006724114.1:p.Leu114Pro
XM_006724052.2:c.341T>C	XP_006724115.1:p.Leu114Pro
XM_006724053.2:c.-59T>C	XP_006724116.1:n.-59T>C
XR_937571.1:n.469T>C
XM_006724051.3:c.341T>C	XP_006724114.1:p.Leu114Pro
XM_006724053.3:c.-59T>C	XP_006724116.1:n.-59T>C
XM_017028470.1:c.470T>C	XP_016883959.1:p.Leu157Pro
XM_017028471.1:c.215T>C	XP_016883960.1:p.Leu72Pro
XM_017028472.1:c.-59T>C	XP_016883961.1:n.-59T>C
XR_937571.2:n.476T>C
NM_004928.3:c.266T>C MANE Select	NP_004919.1:p.Leu89Pro
NM_001271440.2:c.266T>C	NP_001258369.1:p.Leu89Pro
NM_001271441.2:c.266T>C	NP_001258370.1:p.Leu89Pro