Canonical Allele Identifier: CA410457652

Gene: CFAP410

Linked Data

• dbSNP Id: rs1311616380
• gnomAD v2: 21-45753131-G-A
• gnomAD v4: 21-44333248-G-A
• MyVariant Identifiers: chr21:g.45753131G>A (hg19) ; chr21:g.44333248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333248G>A , CM000683.2:g.44333248G>A	GRCh38
NC_000021.8:g.45753131G>A , CM000683.1:g.45753131G>A	GRCh37
NC_000021.7:g.44577559G>A	NCBI36
NG_032952.1:g.11155C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.158C>T MANE Select	ENSP00000344566.4:p.Ser53Phe
ENST00000325223.7:c.158C>T	ENSP00000317302.7:p.Ser53Phe
ENST00000339818.8:c.158C>T	ENSP00000344566.4:p.Ser53Phe
ENST00000397956.7:c.158C>T	ENSP00000381047.3:p.Ser53Phe
ENST00000462742.1:n.2329C>T
ENST00000478674.1:n.217C>T
ENST00000496321.5:n.274C>T
NM_001271440.1:c.158C>T	NP_001258369.1:p.Ser53Phe
NM_001271441.1:c.158C>T	NP_001258370.1:p.Ser53Phe
NM_001271442.1:c.35C>T	NP_001258371.1:p.Ser12Phe
NM_004928.2:c.158C>T	NP_004919.1:p.Ser53Phe
XM_006724051.2:c.233C>T	XP_006724114.1:p.Ser78Phe
XM_006724052.2:c.233C>T	XP_006724115.1:p.Ser78Phe
XM_006724053.2:c.-167C>T	XP_006724116.1:n.-167C>T
XR_937571.1:n.361C>T
XM_006724051.3:c.233C>T	XP_006724114.1:p.Ser78Phe
XM_006724053.3:c.-167C>T	XP_006724116.1:n.-167C>T
XM_017028470.1:c.362C>T	XP_016883959.1:p.Ser121Phe
XM_017028471.1:c.107C>T	XP_016883960.1:p.Ser36Phe
XM_017028472.1:c.-167C>T	XP_016883961.1:n.-167C>T
XR_937571.2:n.368C>T
NM_004928.3:c.158C>T MANE Select	NP_004919.1:p.Ser53Phe
NM_001271440.2:c.158C>T	NP_001258369.1:p.Ser53Phe
NM_001271441.2:c.158C>T	NP_001258370.1:p.Ser53Phe