Canonical Allele Identifier: CA10053719

Gene: CFAP410

Linked Data

• dbSNP Id: rs201278533
• ExAC: 21:45752949 T / G
• gnomAD v2: 21-45752949-T-G
• gnomAD v4: 21-44333066-T-G
• MyVariant Identifiers: chr21:g.45752949T>G (hg19) ; chr21:g.44333066T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333066T>G , CM000683.2:g.44333066T>G	GRCh38
NC_000021.8:g.45752949T>G , CM000683.1:g.45752949T>G	GRCh37
NC_000021.7:g.44577377T>G	NCBI36
NG_032952.1:g.11337A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.340A>C MANE Select	ENSP00000344566.4:p.Thr114Pro
ENST00000325223.7:c.340A>C	ENSP00000317302.7:p.Thr114Pro
ENST00000339818.8:c.340A>C	ENSP00000344566.4:p.Thr114Pro
ENST00000397956.7:c.340A>C	ENSP00000381047.3:p.Thr114Pro
ENST00000462742.1:n.2511A>C
ENST00000478674.1:n.399A>C
ENST00000496321.5:n.456A>C
NM_001271440.1:c.340A>C	NP_001258369.1:p.Thr114Pro
NM_001271441.1:c.340A>C	NP_001258370.1:p.Thr114Pro
NM_001271442.1:c.217A>C	NP_001258371.1:p.Thr73Pro
NM_004928.2:c.340A>C	NP_004919.1:p.Thr114Pro
XM_006724051.2:c.415A>C	XP_006724114.1:p.Thr139Pro
XM_006724052.2:c.415A>C	XP_006724115.1:p.Thr139Pro
XM_006724053.2:c.16A>C	XP_006724116.1:p.Thr6Pro
XR_937571.1:n.543A>C
XM_006724051.3:c.415A>C	XP_006724114.1:p.Thr139Pro
XM_006724053.3:c.16A>C	XP_006724116.1:p.Thr6Pro
XM_017028470.1:c.544A>C	XP_016883959.1:p.Thr182Pro
XM_017028471.1:c.289A>C	XP_016883960.1:p.Thr97Pro
XM_017028472.1:c.16A>C	XP_016883961.1:p.Thr6Pro
XR_937571.2:n.550A>C
NM_004928.3:c.340A>C MANE Select	NP_004919.1:p.Thr114Pro
NM_001271440.2:c.340A>C	NP_001258369.1:p.Thr114Pro
NM_001271441.2:c.340A>C	NP_001258370.1:p.Thr114Pro