Canonical Allele Identifier: CA512671057

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45753097C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333214C>G , CM000683.2:g.44333214C>G	GRCh38
NC_000021.8:g.45753097C>G , CM000683.1:g.45753097C>G	GRCh37
NC_000021.7:g.44577525C>G	NCBI36
NG_032952.1:g.11189G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.192G>C MANE Select	ENSP00000344566.4:p.Leu64=
ENST00000325223.7:c.192G>C	ENSP00000317302.7:p.Leu64=
ENST00000339818.8:c.192G>C	ENSP00000344566.4:p.Leu64=
ENST00000397956.7:c.192G>C	ENSP00000381047.3:p.Leu64=
ENST00000462742.1:n.2363G>C
ENST00000478674.1:n.251G>C
ENST00000496321.5:n.308G>C
NM_001271440.1:c.192G>C	NP_001258369.1:p.Leu64=
NM_001271441.1:c.192G>C	NP_001258370.1:p.Leu64=
NM_001271442.1:c.69G>C	NP_001258371.1:p.Leu23=
NM_004928.2:c.192G>C	NP_004919.1:p.Leu64=
XM_006724051.2:c.267G>C	XP_006724114.1:p.Leu89=
XM_006724052.2:c.267G>C	XP_006724115.1:p.Leu89=
XM_006724053.2:c.-133G>C	XP_006724116.1:n.-133G>C
XR_937571.1:n.395G>C
XM_006724051.3:c.267G>C	XP_006724114.1:p.Leu89=
XM_006724053.3:c.-133G>C	XP_006724116.1:n.-133G>C
XM_017028470.1:c.396G>C	XP_016883959.1:p.Leu132=
XM_017028471.1:c.141G>C	XP_016883960.1:p.Leu47=
XM_017028472.1:c.-133G>C	XP_016883961.1:n.-133G>C
XR_937571.2:n.402G>C
NM_004928.3:c.192G>C MANE Select	NP_004919.1:p.Leu64=
NM_001271440.2:c.192G>C	NP_001258369.1:p.Leu64=
NM_001271441.2:c.192G>C	NP_001258370.1:p.Leu64=