Canonical Allele Identifier: CA512670860

Gene: CFAP410

Linked Data

• dbSNP Id: rs1439423552
• gnomAD v2: 21-45752955-G-A
• gnomAD v4: 21-44333072-G-A
• MyVariant Identifiers: chr21:g.45752955G>A (hg19) ; chr21:g.44333072G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333072G>A , CM000683.2:g.44333072G>A	GRCh38
NC_000021.8:g.45752955G>A , CM000683.1:g.45752955G>A	GRCh37
NC_000021.7:g.44577383G>A	NCBI36
NG_032952.1:g.11331C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.334C>T MANE Select	ENSP00000344566.4:p.Leu112=
ENST00000325223.7:c.334C>T	ENSP00000317302.7:p.Leu112=
ENST00000339818.8:c.334C>T	ENSP00000344566.4:p.Leu112=
ENST00000397956.7:c.334C>T	ENSP00000381047.3:p.Leu112=
ENST00000462742.1:n.2505C>T
ENST00000478674.1:n.393C>T
ENST00000496321.5:n.450C>T
NM_001271440.1:c.334C>T	NP_001258369.1:p.Leu112=
NM_001271441.1:c.334C>T	NP_001258370.1:p.Leu112=
NM_001271442.1:c.211C>T	NP_001258371.1:p.Leu71=
NM_004928.2:c.334C>T	NP_004919.1:p.Leu112=
XM_006724051.2:c.409C>T	XP_006724114.1:p.Leu137=
XM_006724052.2:c.409C>T	XP_006724115.1:p.Leu137=
XM_006724053.2:c.10C>T	XP_006724116.1:p.Leu4=
XR_937571.1:n.537C>T
XM_006724051.3:c.409C>T	XP_006724114.1:p.Leu137=
XM_006724053.3:c.10C>T	XP_006724116.1:p.Leu4=
XM_017028470.1:c.538C>T	XP_016883959.1:p.Leu180=
XM_017028471.1:c.283C>T	XP_016883960.1:p.Leu95=
XM_017028472.1:c.10C>T	XP_016883961.1:p.Leu4=
XR_937571.2:n.544C>T
NM_004928.3:c.334C>T MANE Select	NP_004919.1:p.Leu112=
NM_001271440.2:c.334C>T	NP_001258369.1:p.Leu112=
NM_001271441.2:c.334C>T	NP_001258370.1:p.Leu112=