Canonical Allele Identifier: CA323988

Gene: SKI

Linked Data

• ClinVar Variation Id: 213671
• ClinVar RCV Id: RCV000199440 ; RCV000415889 ; RCV001409838 ; RCV004017479
• dbSNP Id: rs370921440
• ExAC: 1:2235271 C / T
• gnomAD v2: 1-2235271-C-T
• gnomAD v3: 1-2303832-C-T
• gnomAD v4: 1-2303832-C-T
• MyVariant Identifiers: chr1:g.2235271C>T (hg19) ; chr1:g.2303832C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303832C>T , CM000663.2:g.2303832C>T	GRCh38
NC_000001.10:g.2235271C>T , CM000663.1:g.2235271C>T	GRCh37
NC_000001.9:g.2225131C>T	NCBI36
NG_013084.1:g.80138C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.380-8C>T
ENST00000378536.5:c.1212-8C>T MANE Select	ENSP00000367797.4:n.1212-8C>T
ENST00000378536.4:c.1212-8C>T	ENSP00000367797.4:n.1212-8C>T
ENST00000507179.1:n.187C>T
NM_003036.3:c.1212-8C>T	NP_003027.1:n.1212-8C>T
XM_005244775.2:c.1212-8C>T	XP_005244832.1:n.1212-8C>T
XM_005244776.3:c.342-8C>T	XP_005244833.1:n.342-8C>T
XM_005244775.3:c.1212-8C>T	XP_005244832.1:n.1212-8C>T
XM_005244776.4:c.342-8C>T	XP_005244833.1:n.342-8C>T
XM_017002128.1:c.720-8C>T	XP_016857617.1:n.720-8C>T
NM_003036.4:c.1212-8C>T MANE Select	NP_003027.1:n.1212-8C>T