Canonical Allele Identifier: CA410456781

Gene: CFAP410

Linked Data

• dbSNP Id: rs950577318
• gnomAD v2: 21-45753014-A-T
• gnomAD v3: 21-44333131-A-T
• gnomAD v4: 21-44333131-A-T
• MyVariant Identifiers: chr21:g.45753014A>T (hg19) ; chr21:g.44333131A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333131A>T , CM000683.2:g.44333131A>T	GRCh38
NC_000021.8:g.45753014A>T , CM000683.1:g.45753014A>T	GRCh37
NC_000021.7:g.44577442A>T	NCBI36
NG_032952.1:g.11272T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.275T>A MANE Select	ENSP00000344566.4:p.Leu92Gln
ENST00000325223.7:c.275T>A	ENSP00000317302.7:p.Leu92Gln
ENST00000339818.8:c.275T>A	ENSP00000344566.4:p.Leu92Gln
ENST00000397956.7:c.275T>A	ENSP00000381047.3:p.Leu92Gln
ENST00000462742.1:n.2446T>A
ENST00000478674.1:n.334T>A
ENST00000496321.5:n.391T>A
NM_001271440.1:c.275T>A	NP_001258369.1:p.Leu92Gln
NM_001271441.1:c.275T>A	NP_001258370.1:p.Leu92Gln
NM_001271442.1:c.152T>A	NP_001258371.1:p.Leu51Gln
NM_004928.2:c.275T>A	NP_004919.1:p.Leu92Gln
XM_006724051.2:c.350T>A	XP_006724114.1:p.Leu117Gln
XM_006724052.2:c.350T>A	XP_006724115.1:p.Leu117Gln
XM_006724053.2:c.-50T>A	XP_006724116.1:n.-50T>A
XR_937571.1:n.478T>A
XM_006724051.3:c.350T>A	XP_006724114.1:p.Leu117Gln
XM_006724053.3:c.-50T>A	XP_006724116.1:n.-50T>A
XM_017028470.1:c.479T>A	XP_016883959.1:p.Leu160Gln
XM_017028471.1:c.224T>A	XP_016883960.1:p.Leu75Gln
XM_017028472.1:c.-50T>A	XP_016883961.1:n.-50T>A
XR_937571.2:n.485T>A
NM_004928.3:c.275T>A MANE Select	NP_004919.1:p.Leu92Gln
NM_001271440.2:c.275T>A	NP_001258369.1:p.Leu92Gln
NM_001271441.2:c.275T>A	NP_001258370.1:p.Leu92Gln