Canonical Allele Identifier: CA410457625

Gene: CFAP410

Linked Data

• dbSNP Id: rs1381954850
• gnomAD v2: 21-45753128-G-A
• gnomAD v4: 21-44333245-G-A
• MyVariant Identifiers: chr21:g.45753128G>A (hg19) ; chr21:g.44333245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333245G>A , CM000683.2:g.44333245G>A	GRCh38
NC_000021.8:g.45753128G>A , CM000683.1:g.45753128G>A	GRCh37
NC_000021.7:g.44577556G>A	NCBI36
NG_032952.1:g.11158C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.161C>T MANE Select	ENSP00000344566.4:p.Thr54Ile
ENST00000325223.7:c.161C>T	ENSP00000317302.7:p.Thr54Ile
ENST00000339818.8:c.161C>T	ENSP00000344566.4:p.Thr54Ile
ENST00000397956.7:c.161C>T	ENSP00000381047.3:p.Thr54Ile
ENST00000462742.1:n.2332C>T
ENST00000478674.1:n.220C>T
ENST00000496321.5:n.277C>T
NM_001271440.1:c.161C>T	NP_001258369.1:p.Thr54Ile
NM_001271441.1:c.161C>T	NP_001258370.1:p.Thr54Ile
NM_001271442.1:c.38C>T	NP_001258371.1:p.Thr13Ile
NM_004928.2:c.161C>T	NP_004919.1:p.Thr54Ile
XM_006724051.2:c.236C>T	XP_006724114.1:p.Thr79Ile
XM_006724052.2:c.236C>T	XP_006724115.1:p.Thr79Ile
XM_006724053.2:c.-164C>T	XP_006724116.1:n.-164C>T
XR_937571.1:n.364C>T
XM_006724051.3:c.236C>T	XP_006724114.1:p.Thr79Ile
XM_006724053.3:c.-164C>T	XP_006724116.1:n.-164C>T
XM_017028470.1:c.365C>T	XP_016883959.1:p.Thr122Ile
XM_017028471.1:c.110C>T	XP_016883960.1:p.Thr37Ile
XM_017028472.1:c.-164C>T	XP_016883961.1:n.-164C>T
XR_937571.2:n.371C>T
NM_004928.3:c.161C>T MANE Select	NP_004919.1:p.Thr54Ile
NM_001271440.2:c.161C>T	NP_001258369.1:p.Thr54Ile
NM_001271441.2:c.161C>T	NP_001258370.1:p.Thr54Ile