Canonical Allele Identifier: CA410456278

Gene: CFAP410

Linked Data

• gnomAD v4: 21-44333068-C-G
• MyVariant Identifiers: chr21:g.45752951C>G (hg19) ; chr21:g.44333068C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333068C>G , CM000683.2:g.44333068C>G	GRCh38
NC_000021.8:g.45752951C>G , CM000683.1:g.45752951C>G	GRCh37
NC_000021.7:g.44577379C>G	NCBI36
NG_032952.1:g.11335G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.338G>C MANE Select	ENSP00000344566.4:p.Arg113Pro
ENST00000325223.7:c.338G>C	ENSP00000317302.7:p.Arg113Pro
ENST00000339818.8:c.338G>C	ENSP00000344566.4:p.Arg113Pro
ENST00000397956.7:c.338G>C	ENSP00000381047.3:p.Arg113Pro
ENST00000462742.1:n.2509G>C
ENST00000478674.1:n.397G>C
ENST00000496321.5:n.454G>C
NM_001271440.1:c.338G>C	NP_001258369.1:p.Arg113Pro
NM_001271441.1:c.338G>C	NP_001258370.1:p.Arg113Pro
NM_001271442.1:c.215G>C	NP_001258371.1:p.Arg72Pro
NM_004928.2:c.338G>C	NP_004919.1:p.Arg113Pro
XM_006724051.2:c.413G>C	XP_006724114.1:p.Arg138Pro
XM_006724052.2:c.413G>C	XP_006724115.1:p.Arg138Pro
XM_006724053.2:c.14G>C	XP_006724116.1:p.Arg5Pro
XR_937571.1:n.541G>C
XM_006724051.3:c.413G>C	XP_006724114.1:p.Arg138Pro
XM_006724053.3:c.14G>C	XP_006724116.1:p.Arg5Pro
XM_017028470.1:c.542G>C	XP_016883959.1:p.Arg181Pro
XM_017028471.1:c.287G>C	XP_016883960.1:p.Arg96Pro
XM_017028472.1:c.14G>C	XP_016883961.1:p.Arg5Pro
XR_937571.2:n.548G>C
NM_004928.3:c.338G>C MANE Select	NP_004919.1:p.Arg113Pro
NM_001271440.2:c.338G>C	NP_001258369.1:p.Arg113Pro
NM_001271441.2:c.338G>C	NP_001258370.1:p.Arg113Pro