Canonical Allele Identifier: CA410456257

Gene: CFAP410

Linked Data

• dbSNP Id: rs1174337216
• gnomAD v2: 21-45752945-A-G
• MyVariant Identifiers: chr21:g.45752945A>G (hg19) ; chr21:g.44333062A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333062A>G , CM000683.2:g.44333062A>G	GRCh38
NC_000021.8:g.45752945A>G , CM000683.1:g.45752945A>G	GRCh37
NC_000021.7:g.44577373A>G	NCBI36
NG_032952.1:g.11341T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.344T>C MANE Select	ENSP00000344566.4:p.Leu115Pro
ENST00000325223.7:c.344T>C	ENSP00000317302.7:p.Leu115Pro
ENST00000339818.8:c.344T>C	ENSP00000344566.4:p.Leu115Pro
ENST00000397956.7:c.344T>C	ENSP00000381047.3:p.Leu115Pro
ENST00000462742.1:n.2515T>C
ENST00000478674.1:n.403T>C
ENST00000496321.5:n.460T>C
NM_001271440.1:c.344T>C	NP_001258369.1:p.Leu115Pro
NM_001271441.1:c.344T>C	NP_001258370.1:p.Leu115Pro
NM_001271442.1:c.221T>C	NP_001258371.1:p.Leu74Pro
NM_004928.2:c.344T>C	NP_004919.1:p.Leu115Pro
XM_006724051.2:c.419T>C	XP_006724114.1:p.Leu140Pro
XM_006724052.2:c.419T>C	XP_006724115.1:p.Leu140Pro
XM_006724053.2:c.20T>C	XP_006724116.1:p.Leu7Pro
XR_937571.1:n.547T>C
XM_006724051.3:c.419T>C	XP_006724114.1:p.Leu140Pro
XM_006724053.3:c.20T>C	XP_006724116.1:p.Leu7Pro
XM_017028470.1:c.548T>C	XP_016883959.1:p.Leu183Pro
XM_017028471.1:c.293T>C	XP_016883960.1:p.Leu98Pro
XM_017028472.1:c.20T>C	XP_016883961.1:p.Leu7Pro
XR_937571.2:n.554T>C
NM_004928.3:c.344T>C MANE Select	NP_004919.1:p.Leu115Pro
NM_001271440.2:c.344T>C	NP_001258369.1:p.Leu115Pro
NM_001271441.2:c.344T>C	NP_001258370.1:p.Leu115Pro