Canonical Allele Identifier: CA410456242

Gene: CFAP410

Linked Data

• gnomAD v4: 21-44333060-G-A
• MyVariant Identifiers: chr21:g.45752943G>A (hg19) ; chr21:g.44333060G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333060G>A , CM000683.2:g.44333060G>A	GRCh38
NC_000021.8:g.45752943G>A , CM000683.1:g.45752943G>A	GRCh37
NC_000021.7:g.44577371G>A	NCBI36
NG_032952.1:g.11343C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.346C>T MANE Select	ENSP00000344566.4:p.Pro116Ser
ENST00000325223.7:c.346C>T	ENSP00000317302.7:p.Pro116Ser
ENST00000339818.8:c.346C>T	ENSP00000344566.4:p.Pro116Ser
ENST00000397956.7:c.346C>T	ENSP00000381047.3:p.Pro116Ser
ENST00000462742.1:n.2517C>T
ENST00000478674.1:n.405C>T
ENST00000496321.5:n.462C>T
NM_001271440.1:c.346C>T	NP_001258369.1:p.Pro116Ser
NM_001271441.1:c.346C>T	NP_001258370.1:p.Pro116Ser
NM_001271442.1:c.223C>T	NP_001258371.1:p.Pro75Ser
NM_004928.2:c.346C>T	NP_004919.1:p.Pro116Ser
XM_006724051.2:c.421C>T	XP_006724114.1:p.Pro141Ser
XM_006724052.2:c.421C>T	XP_006724115.1:p.Pro141Ser
XM_006724053.2:c.22C>T	XP_006724116.1:p.Pro8Ser
XR_937571.1:n.549C>T
XM_006724051.3:c.421C>T	XP_006724114.1:p.Pro141Ser
XM_006724053.3:c.22C>T	XP_006724116.1:p.Pro8Ser
XM_017028470.1:c.550C>T	XP_016883959.1:p.Pro184Ser
XM_017028471.1:c.295C>T	XP_016883960.1:p.Pro99Ser
XM_017028472.1:c.22C>T	XP_016883961.1:p.Pro8Ser
XR_937571.2:n.556C>T
NM_004928.3:c.346C>T MANE Select	NP_004919.1:p.Pro116Ser
NM_001271440.2:c.346C>T	NP_001258369.1:p.Pro116Ser
NM_001271441.2:c.346C>T	NP_001258370.1:p.Pro116Ser