Canonical Allele Identifier: CA381460835

Gene: CTSF

Linked Data

• ClinVar Variation Id: 585733
• ClinVar RCV Id: RCV000711339
• dbSNP Id: rs1219372597
• gnomAD v2: 11-66333314-G-A
• gnomAD v4: 11-66565843-G-A
• MyVariant Identifiers: chr11:g.66333314G>A (hg19) ; chr11:g.66565843G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66565843G>A , CM000673.2:g.66565843G>A	GRCh38
NC_000011.9:g.66333314G>A , CM000673.1:g.66333314G>A	GRCh37
NC_000011.8:g.66089890G>A	NCBI36
NG_032973.1:g.7734C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310325.10:c.952C>T MANE Select	ENSP00000310832.5:p.Leu318Phe
ENST00000524994.6:c.949C>T	ENSP00000433082.2:p.Leu317Phe
ENST00000525733.6:c.*146C>T	ENSP00000434936.2:n.*146C>T
ENST00000526010.2:c.676C>T	ENSP00000435822.2:p.Leu226Phe
ENST00000527141.6:n.851C>T
ENST00000530565.6:n.575C>T
ENST00000533168.2:n.1040C>T
ENST00000676860.1:n.903C>T
ENST00000676924.1:c.952C>T	ENSP00000503579.1:p.Leu318Phe
ENST00000677005.1:c.952C>T	ENSP00000503238.1:p.Leu318Phe
ENST00000677186.1:n.1072C>T
ENST00000677298.1:n.1358C>T
ENST00000677365.1:n.1011C>T
ENST00000677526.1:c.868-92C>T	ENSP00000504693.1:n.868-92C>T
ENST00000677587.1:c.994C>T	ENSP00000503791.1:p.Leu332Phe
ENST00000677779.1:n.797C>T
ENST00000677896.1:c.943C>T	ENSP00000504605.1:p.Leu315Phe
ENST00000677920.1:c.*204C>T	ENSP00000503614.1:n.*204C>T
ENST00000678154.1:c.*614C>T	ENSP00000502935.1:n.*614C>T
ENST00000678294.1:n.1068C>T
ENST00000678305.1:c.880C>T	ENSP00000504383.1:p.Leu294Phe
ENST00000678383.1:n.961C>T
ENST00000678413.1:c.*146C>T	ENSP00000503232.1:n.*146C>T
ENST00000678471.1:c.952C>T	ENSP00000502949.1:p.Leu318Phe
ENST00000678614.1:n.132C>T
ENST00000678710.1:c.952C>T	ENSP00000504254.1:p.Leu318Phe
ENST00000678872.1:c.952C>T	ENSP00000503425.1:p.Leu318Phe
ENST00000678946.1:n.884C>T
ENST00000678953.1:c.*688C>T	ENSP00000504169.1:n.*688C>T
ENST00000679011.1:c.868-92C>T	ENSP00000503980.1:n.868-92C>T
ENST00000679024.1:c.952C>T	ENSP00000503506.1:p.Leu318Phe
ENST00000679160.1:c.877C>T	ENSP00000503972.1:p.Leu293Phe
ENST00000679225.1:n.892C>T
ENST00000679314.1:c.952C>T	ENSP00000503465.1:p.Leu318Phe
ENST00000679347.1:c.952C>T	ENSP00000503676.1:p.Leu318Phe
ENST00000310325.9:c.952C>T	ENSP00000310832.5:p.Leu318Phe
ENST00000524994.5:c.494C>T
ENST00000525733.5:c.221C>T
ENST00000527141.5:n.473C>T
ENST00000529199.1:n.212C>T
ENST00000530565.5:n.198C>T
NM_003793.3:c.952C>T	NP_003784.2:p.Leu318Phe
XM_011545328.1:c.772C>T	XP_011543630.1:p.Leu258Phe
XM_011545328.2:c.772C>T	XP_011543630.1:p.Leu258Phe
NM_003793.4:c.952C>T MANE Select	NP_003784.2:p.Leu318Phe