Canonical Allele Identifier: CA410456268

Gene: CFAP410

Linked Data

• dbSNP Id: rs1414056952
• gnomAD v2: 21-45752948-G-T
• gnomAD v4: 21-44333065-G-T
• MyVariant Identifiers: chr21:g.45752948G>T (hg19) ; chr21:g.44333065G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333065G>T , CM000683.2:g.44333065G>T	GRCh38
NC_000021.8:g.45752948G>T , CM000683.1:g.45752948G>T	GRCh37
NC_000021.7:g.44577376G>T	NCBI36
NG_032952.1:g.11338C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.341C>A MANE Select	ENSP00000344566.4:p.Thr114Asn
ENST00000325223.7:c.341C>A	ENSP00000317302.7:p.Thr114Asn
ENST00000339818.8:c.341C>A	ENSP00000344566.4:p.Thr114Asn
ENST00000397956.7:c.341C>A	ENSP00000381047.3:p.Thr114Asn
ENST00000462742.1:n.2512C>A
ENST00000478674.1:n.400C>A
ENST00000496321.5:n.457C>A
NM_001271440.1:c.341C>A	NP_001258369.1:p.Thr114Asn
NM_001271441.1:c.341C>A	NP_001258370.1:p.Thr114Asn
NM_001271442.1:c.218C>A	NP_001258371.1:p.Thr73Asn
NM_004928.2:c.341C>A	NP_004919.1:p.Thr114Asn
XM_006724051.2:c.416C>A	XP_006724114.1:p.Thr139Asn
XM_006724052.2:c.416C>A	XP_006724115.1:p.Thr139Asn
XM_006724053.2:c.17C>A	XP_006724116.1:p.Thr6Asn
XR_937571.1:n.544C>A
XM_006724051.3:c.416C>A	XP_006724114.1:p.Thr139Asn
XM_006724053.3:c.17C>A	XP_006724116.1:p.Thr6Asn
XM_017028470.1:c.545C>A	XP_016883959.1:p.Thr182Asn
XM_017028471.1:c.290C>A	XP_016883960.1:p.Thr97Asn
XM_017028472.1:c.17C>A	XP_016883961.1:p.Thr6Asn
XR_937571.2:n.551C>A
NM_004928.3:c.341C>A MANE Select	NP_004919.1:p.Thr114Asn
NM_001271440.2:c.341C>A	NP_001258369.1:p.Thr114Asn
NM_001271441.2:c.341C>A	NP_001258370.1:p.Thr114Asn