Canonical Allele Identifier: CA512670839

Gene: CFAP410

Linked Data

• gnomAD v4: 21-44333061-C-A
• MyVariant Identifiers: chr21:g.45752944C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333061C>A , CM000683.2:g.44333061C>A	GRCh38
NC_000021.8:g.45752944C>A , CM000683.1:g.45752944C>A	GRCh37
NC_000021.7:g.44577372C>A	NCBI36
NG_032952.1:g.11342G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.345G>T MANE Select	ENSP00000344566.4:p.Leu115=
ENST00000325223.7:c.345G>T	ENSP00000317302.7:p.Leu115=
ENST00000339818.8:c.345G>T	ENSP00000344566.4:p.Leu115=
ENST00000397956.7:c.345G>T	ENSP00000381047.3:p.Leu115=
ENST00000462742.1:n.2516G>T
ENST00000478674.1:n.404G>T
ENST00000496321.5:n.461G>T
NM_001271440.1:c.345G>T	NP_001258369.1:p.Leu115=
NM_001271441.1:c.345G>T	NP_001258370.1:p.Leu115=
NM_001271442.1:c.222G>T	NP_001258371.1:p.Leu74=
NM_004928.2:c.345G>T	NP_004919.1:p.Leu115=
XM_006724051.2:c.420G>T	XP_006724114.1:p.Leu140=
XM_006724052.2:c.420G>T	XP_006724115.1:p.Leu140=
XM_006724053.2:c.21G>T	XP_006724116.1:p.Leu7=
XR_937571.1:n.548G>T
XM_006724051.3:c.420G>T	XP_006724114.1:p.Leu140=
XM_006724053.3:c.21G>T	XP_006724116.1:p.Leu7=
XM_017028470.1:c.549G>T	XP_016883959.1:p.Leu183=
XM_017028471.1:c.294G>T	XP_016883960.1:p.Leu98=
XM_017028472.1:c.21G>T	XP_016883961.1:p.Leu7=
XR_937571.2:n.555G>T
NM_004928.3:c.345G>T MANE Select	NP_004919.1:p.Leu115=
NM_001271440.2:c.345G>T	NP_001258369.1:p.Leu115=
NM_001271441.2:c.345G>T	NP_001258370.1:p.Leu115=