Canonical Allele Identifier: CA512670495

Gene: CFAP410

Linked Data

• MyVariant Identifiers: chr21:g.45750189C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44330306C>G , CM000683.2:g.44330306C>G	GRCh38
NC_000021.8:g.45750189C>G , CM000683.1:g.45750189C>G	GRCh37
NC_000021.7:g.44574617C>G	NCBI36
NG_032952.1:g.14097G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.663G>C MANE Select	ENSP00000344566.4:p.Leu221=
ENST00000325223.7:c.660G>C	ENSP00000317302.7:p.Leu220=
ENST00000339818.8:c.663G>C	ENSP00000344566.4:p.Leu221=
ENST00000397956.7:c.1020G>C	ENSP00000381047.3:p.Leu340=
ENST00000462742.1:n.4117G>C
ENST00000470196.5:n.239G>C
ENST00000496321.5:n.776G>C
NM_001271440.1:c.660G>C	NP_001258369.1:p.Leu220=
NM_001271441.1:c.1020G>C	NP_001258370.1:p.Leu340=
NM_001271442.1:c.537G>C	NP_001258371.1:p.Leu179=
NM_004928.2:c.663G>C	NP_004919.1:p.Leu221=
XM_006724051.2:c.738G>C	XP_006724114.1:p.Leu246=
XM_006724052.2:c.735G>C	XP_006724115.1:p.Leu245=
XM_006724053.2:c.339G>C	XP_006724116.1:p.Leu113=
XR_937571.1:n.1223G>C
XM_006724051.3:c.738G>C	XP_006724114.1:p.Leu246=
XM_006724053.3:c.339G>C	XP_006724116.1:p.Leu113=
XM_017028470.1:c.864G>C	XP_016883959.1:p.Leu288=
XM_017028471.1:c.612G>C	XP_016883960.1:p.Leu204=
XM_017028472.1:c.336G>C	XP_016883961.1:p.Leu112=
XR_937571.2:n.1230G>C
NM_004928.3:c.663G>C MANE Select	NP_004919.1:p.Leu221=
NM_001271440.2:c.660G>C	NP_001258369.1:p.Leu220=
NM_001271441.2:c.1020G>C	NP_001258370.1:p.Leu340=