Canonical Allele Identifier: CA410456502

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45752990C>G (hg19) ; chr21:g.44333107C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333107C>G , CM000683.2:g.44333107C>G	GRCh38
NC_000021.8:g.45752990C>G , CM000683.1:g.45752990C>G	GRCh37
NC_000021.7:g.44577418C>G	NCBI36
NG_032952.1:g.11296G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.299G>C MANE Select	ENSP00000344566.4:p.Cys100Ser
ENST00000325223.7:c.299G>C	ENSP00000317302.7:p.Cys100Ser
ENST00000339818.8:c.299G>C	ENSP00000344566.4:p.Cys100Ser
ENST00000397956.7:c.299G>C	ENSP00000381047.3:p.Cys100Ser
ENST00000462742.1:n.2470G>C
ENST00000478674.1:n.358G>C
ENST00000496321.5:n.415G>C
NM_001271440.1:c.299G>C	NP_001258369.1:p.Cys100Ser
NM_001271441.1:c.299G>C	NP_001258370.1:p.Cys100Ser
NM_001271442.1:c.176G>C	NP_001258371.1:p.Cys59Ser
NM_004928.2:c.299G>C	NP_004919.1:p.Cys100Ser
XM_006724051.2:c.374G>C	XP_006724114.1:p.Cys125Ser
XM_006724052.2:c.374G>C	XP_006724115.1:p.Cys125Ser
XM_006724053.2:c.-26G>C	XP_006724116.1:n.-26G>C
XR_937571.1:n.502G>C
XM_006724051.3:c.374G>C	XP_006724114.1:p.Cys125Ser
XM_006724053.3:c.-26G>C	XP_006724116.1:n.-26G>C
XM_017028470.1:c.503G>C	XP_016883959.1:p.Cys168Ser
XM_017028471.1:c.248G>C	XP_016883960.1:p.Cys83Ser
XM_017028472.1:c.-26G>C	XP_016883961.1:n.-26G>C
XR_937571.2:n.509G>C
NM_004928.3:c.299G>C MANE Select	NP_004919.1:p.Cys100Ser
NM_001271440.2:c.299G>C	NP_001258369.1:p.Cys100Ser
NM_001271441.2:c.299G>C	NP_001258370.1:p.Cys100Ser