Canonical Allele Identifier: CA321784814

Gene: CFAP410

Linked Data

• dbSNP Id: rs549536131
• gnomAD v2: 21-45752978-G-A
• gnomAD v4: 21-44333095-G-A
• MyVariant Identifiers: chr21:g.45752978G>A (hg19) ; chr21:g.44333095G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333095G>A , CM000683.2:g.44333095G>A	GRCh38
NC_000021.8:g.45752978G>A , CM000683.1:g.45752978G>A	GRCh37
NC_000021.7:g.44577406G>A	NCBI36
NG_032952.1:g.11308C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.311C>T MANE Select	ENSP00000344566.4:p.Pro104Leu
ENST00000325223.7:c.311C>T	ENSP00000317302.7:p.Pro104Leu
ENST00000339818.8:c.311C>T	ENSP00000344566.4:p.Pro104Leu
ENST00000397956.7:c.311C>T	ENSP00000381047.3:p.Pro104Leu
ENST00000462742.1:n.2482C>T
ENST00000478674.1:n.370C>T
ENST00000496321.5:n.427C>T
NM_001271440.1:c.311C>T	NP_001258369.1:p.Pro104Leu
NM_001271441.1:c.311C>T	NP_001258370.1:p.Pro104Leu
NM_001271442.1:c.188C>T	NP_001258371.1:p.Pro63Leu
NM_004928.2:c.311C>T	NP_004919.1:p.Pro104Leu
XM_006724051.2:c.386C>T	XP_006724114.1:p.Pro129Leu
XM_006724052.2:c.386C>T	XP_006724115.1:p.Pro129Leu
XM_006724053.2:c.-14C>T	XP_006724116.1:n.-14C>T
XR_937571.1:n.514C>T
XM_006724051.3:c.386C>T	XP_006724114.1:p.Pro129Leu
XM_006724053.3:c.-14C>T	XP_006724116.1:n.-14C>T
XM_017028470.1:c.515C>T	XP_016883959.1:p.Pro172Leu
XM_017028471.1:c.260C>T	XP_016883960.1:p.Pro87Leu
XM_017028472.1:c.-14C>T	XP_016883961.1:n.-14C>T
XR_937571.2:n.521C>T
NM_004928.3:c.311C>T MANE Select	NP_004919.1:p.Pro104Leu
NM_001271440.2:c.311C>T	NP_001258369.1:p.Pro104Leu
NM_001271441.2:c.311C>T	NP_001258370.1:p.Pro104Leu