Canonical Allele Identifier: CA3346363

Gene: SKIC3

Linked Data

• ClinVar Variation Id: 287653
• ClinVar RCV Id: RCV000262565 ; RCV002291216 ; RCV002282106
• dbSNP Id: rs200067423
• ExAC: 5:94803683 G / A
• gnomAD v2: 5-94803683-G-A
• gnomAD v3: 5-95467979-G-A
• gnomAD v4: 5-95467979-G-A
• COSMIC: COSM1071342
• MyVariant Identifiers: chr5:g.94803683G>A (hg19) ; chr5:g.95467979G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95467979G>A , CM000667.2:g.95467979G>A	GRCh38
NC_000005.9:g.94803683G>A , CM000667.1:g.94803683G>A	GRCh37
NC_000005.8:g.94829439G>A	NCBI36
NG_023414.1:g.92027C>T , LRG_173:g.92027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.5999C>T
ENST00000513232.2:c.*3330C>T	ENSP00000422749.2:n.*3330C>T
ENST00000698450.1:n.3891C>T
ENST00000698451.1:n.4177C>T
ENST00000698452.1:n.5349C>T
ENST00000698453.1:c.*1928C>T	ENSP00000513735.1:n.*1928C>T
ENST00000698454.1:c.4498C>T	ENSP00000513736.1:p.Arg1500Cys
ENST00000698455.1:c.*4733C>T	ENSP00000513737.1:n.*4733C>T
ENST00000698456.1:c.*3365C>T	ENSP00000513738.1:n.*3365C>T
ENST00000698457.1:c.4297C>T	ENSP00000513739.1:p.Arg1433Cys
ENST00000698458.1:c.*1928C>T	ENSP00000513740.1:n.*1928C>T
ENST00000698459.1:c.*1869C>T	ENSP00000513741.1:n.*1869C>T
ENST00000698460.1:c.*2270C>T	ENSP00000513742.1:n.*2270C>T
ENST00000698461.1:n.4962C>T
ENST00000698462.1:n.4882C>T
ENST00000698463.1:n.2289C>T
ENST00000698464.1:n.1755C>T
ENST00000698465.1:n.1532C>T
ENST00000698466.1:n.6122C>T
ENST00000698467.1:n.2107C>T
ENST00000698468.1:n.5372C>T
ENST00000698469.1:c.*3962C>T	ENSP00000513743.1:n.*3962C>T
ENST00000698470.1:c.*2457C>T	ENSP00000513744.1:n.*2457C>T
ENST00000698471.1:n.7426C>T
ENST00000698472.1:c.*3511C>T	ENSP00000513745.1:n.*3511C>T
ENST00000698473.1:n.6006C>T
ENST00000698474.1:n.5108C>T
ENST00000698475.1:n.7714C>T
ENST00000698476.1:c.*858C>T	ENSP00000513746.1:n.*858C>T
ENST00000698477.1:c.*1661C>T	ENSP00000513747.1:n.*1661C>T
ENST00000698478.1:n.4761C>T
ENST00000698479.1:c.4549C>T	ENSP00000513748.1:p.Arg1517Cys
ENST00000698480.1:c.*1817C>T	ENSP00000513749.1:n.*1817C>T
ENST00000698481.1:c.*1660C>T	ENSP00000513750.1:n.*1660C>T
ENST00000698482.1:n.8147C>T
ENST00000698483.1:n.8312C>T
ENST00000698484.1:c.*1437C>T	ENSP00000513751.1:n.*1437C>T
ENST00000698485.1:c.*1802C>T	ENSP00000513752.1:n.*1802C>T
ENST00000698486.1:n.5044C>T
ENST00000698487.1:c.4501C>T	ENSP00000513753.1:p.Arg1501Cys
ENST00000698488.1:c.*1679C>T	ENSP00000513754.1:n.*1679C>T
ENST00000698489.1:n.8828C>T
ENST00000698490.1:c.4498C>T	ENSP00000513755.1:p.Arg1500Cys
ENST00000698491.1:n.247C>T
ENST00000698492.1:c.*3100C>T	ENSP00000513756.1:n.*3100C>T
ENST00000698493.1:n.4797C>T
ENST00000358746.7:c.4507C>T MANE Select	ENSP00000351596.3:p.Arg1503Cys
ENST00000649566.1:c.4507C>T	ENSP00000497948.1:p.Arg1503Cys
ENST00000358746.6:c.4507C>T	ENSP00000351596.2:p.Arg1503Cys
NM_014639.3:c.4507C>T , LRG_173t1:c.4507C>T	NP_055454.1:p.Arg1503Cys
NM_014639.4:c.4507C>T MANE Select	NP_055454.1:p.Arg1503Cys