Canonical Allele Identifier: CA10053778

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 1663022
• ClinVar RCV Id: RCV002200504
• dbSNP Id: rs758224762
• ExAC: 21:45753152 G / A
• gnomAD v2: 21-45753152-G-A
• gnomAD v3: 21-44333269-G-A
• gnomAD v4: 21-44333269-G-A
• MyVariant Identifiers: chr21:g.45753152G>A (hg19) ; chr21:g.44333269G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333269G>A , CM000683.2:g.44333269G>A	GRCh38
NC_000021.8:g.45753152G>A , CM000683.1:g.45753152G>A	GRCh37
NC_000021.7:g.44577580G>A	NCBI36
NG_032952.1:g.11134C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.144-7C>T MANE Select	ENSP00000344566.4:n.144-7C>T
ENST00000325223.7:c.144-7C>T	ENSP00000317302.7:n.144-7C>T
ENST00000339818.8:c.144-7C>T	ENSP00000344566.4:n.144-7C>T
ENST00000397956.7:c.144-7C>T	ENSP00000381047.3:n.144-7C>T
ENST00000462742.1:n.2315-7C>T
ENST00000478674.1:n.196C>T
ENST00000496321.5:n.269-16C>T
NM_001271440.1:c.144-7C>T	NP_001258369.1:n.144-7C>T
NM_001271441.1:c.144-7C>T	NP_001258370.1:n.144-7C>T
NM_001271442.1:c.30-16C>T	NP_001258371.1:n.30-16C>T
NM_004928.2:c.144-7C>T	NP_004919.1:n.144-7C>T
XM_006724051.2:c.219-7C>T	XP_006724114.1:n.219-7C>T
XM_006724052.2:c.219-7C>T	XP_006724115.1:n.219-7C>T
XM_006724053.2:c.-181-7C>T	XP_006724116.1:n.-181-7C>T
XR_937571.1:n.347-7C>T
XM_006724051.3:c.219-7C>T	XP_006724114.1:n.219-7C>T
XM_006724053.3:c.-181-7C>T	XP_006724116.1:n.-181-7C>T
XM_017028470.1:c.348-7C>T	XP_016883959.1:n.348-7C>T
XM_017028471.1:c.93-7C>T	XP_016883960.1:n.93-7C>T
XM_017028472.1:c.-181-7C>T	XP_016883961.1:n.-181-7C>T
XR_937571.2:n.354-7C>T
NM_004928.3:c.144-7C>T MANE Select	NP_004919.1:n.144-7C>T
NM_001271440.2:c.144-7C>T	NP_001258369.1:n.144-7C>T
NM_001271441.2:c.144-7C>T	NP_001258370.1:n.144-7C>T