Canonical Allele Identifier: CA410456216

Gene: CFAP410

Linked Data

• gnomAD v4: 21-44333053-A-G
• MyVariant Identifiers: chr21:g.45752936A>G (hg19) ; chr21:g.44333053A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333053A>G , CM000683.2:g.44333053A>G	GRCh38
NC_000021.8:g.45752936A>G , CM000683.1:g.45752936A>G	GRCh37
NC_000021.7:g.44577364A>G	NCBI36
NG_032952.1:g.11350T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.353T>C MANE Select	ENSP00000344566.4:p.Leu118Pro
ENST00000325223.7:c.353T>C	ENSP00000317302.7:p.Leu118Pro
ENST00000339818.8:c.353T>C	ENSP00000344566.4:p.Leu118Pro
ENST00000397956.7:c.353T>C	ENSP00000381047.3:p.Leu118Pro
ENST00000462742.1:n.2524T>C
ENST00000478674.1:n.412T>C
ENST00000496321.5:n.469T>C
NM_001271440.1:c.353T>C	NP_001258369.1:p.Leu118Pro
NM_001271441.1:c.353T>C	NP_001258370.1:p.Leu118Pro
NM_001271442.1:c.230T>C	NP_001258371.1:p.Leu77Pro
NM_004928.2:c.353T>C	NP_004919.1:p.Leu118Pro
XM_006724051.2:c.428T>C	XP_006724114.1:p.Leu143Pro
XM_006724052.2:c.428T>C	XP_006724115.1:p.Leu143Pro
XM_006724053.2:c.29T>C	XP_006724116.1:p.Leu10Pro
XR_937571.1:n.556T>C
XM_006724051.3:c.428T>C	XP_006724114.1:p.Leu143Pro
XM_006724053.3:c.29T>C	XP_006724116.1:p.Leu10Pro
XM_017028470.1:c.557T>C	XP_016883959.1:p.Leu186Pro
XM_017028471.1:c.302T>C	XP_016883960.1:p.Leu101Pro
XM_017028472.1:c.29T>C	XP_016883961.1:p.Leu10Pro
XR_937571.2:n.563T>C
NM_004928.3:c.353T>C MANE Select	NP_004919.1:p.Leu118Pro
NM_001271440.2:c.353T>C	NP_001258369.1:p.Leu118Pro
NM_001271441.2:c.353T>C	NP_001258370.1:p.Leu118Pro