Canonical Allele Identifier: CA337951871

Gene: SKI

Linked Data

• ClinVar Variation Id: 426734
• ClinVar RCV Id: RCV000490080 ; RCV000703987
• dbSNP Id: rs1085307767
• gnomAD v3: 1-2228777-C-T
• gnomAD v4: 1-2228777-C-T
• MyVariant Identifiers: chr1:g.2160216C>T (hg19) ; chr1:g.2228777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2228777C>T , CM000663.2:g.2228777C>T	GRCh38
NC_000001.10:g.2160216C>T , CM000663.1:g.2160216C>T	GRCh37
NC_000001.9:g.2150076C>T	NCBI36
NG_013084.1:g.5083C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.137+1253C>T
ENST00000378536.5:c.11C>T MANE Select	ENSP00000367797.4:p.Ala4Val
ENST00000378536.4:c.11C>T	ENSP00000367797.4:p.Ala4Val
NM_003036.3:c.11C>T	NP_003027.1:p.Ala4Val
XM_005244775.2:c.11C>T	XP_005244832.1:p.Ala4Val
XM_005244775.3:c.11C>T	XP_005244832.1:p.Ala4Val
NM_003036.4:c.11C>T MANE Select	NP_003027.1:p.Ala4Val