Canonical Allele Identifier: CA10642431

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 316914
• ClinVar RCV Id: RCV000347933 ; RCV000386020
• dbSNP Id: rs369386357
• gnomAD v2: 15-67484651-A-ACCT
• gnomAD v3: 15-67192313-A-ACCT
• gnomAD v4: 15-67192313-A-ACCT
• MyVariant Identifiers: chr15:g.67484651_67484652insCCT (hg19) ; chr15:g.67192313_67192314insCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67192313_67192314insCCT , CM000677.2:g.67192313_67192314insCCT	GRCh38
NC_000015.9:g.67484651_67484652insCCT , CM000677.1:g.67484651_67484652insCCT	GRCh37
NC_000015.8:g.65271705_65271706insCCT	NCBI36
NG_011990.1:g.131457_131458insCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000558739.2:c.*1777_*1778insCCT	ENSP00000453684.2:n.*1777_*1778insCCT
ENST00000559460.6:c.*1777_*1778insCCT	ENSP00000453082.2:n.*1777_*1778insCCT
ENST00000327367.9:c.*1777_*1778insCCT MANE Select	ENSP00000332973.4:n.*1777_*1778insCCT
ENST00000679624.1:c.*1777_*1778insCCT	ENSP00000505445.1:n.*1777_*1778insCCT
ENST00000681239.1:c.*1777_*1778insCCT	ENSP00000505641.1:n.*1777_*1778insCCT
ENST00000327367.8:c.*1777_*1778insCCT	ENSP00000332973.4:n.*1777_*1778insCCT
ENST00000560402.1:n.283-560_283-559insCCT
NM_001145102.1:c.*1777_*1778insCCT	NP_001138574.1:n.*1777_*1778insCCT
NM_001145103.1:c.*1777_*1778insCCT	NP_001138575.1:n.*1777_*1778insCCT
NM_001145104.1:c.*1777_*1778insCCT	NP_001138576.1:n.*1777_*1778insCCT
NM_005902.3:c.*1777_*1778insCCT	NP_005893.1:n.*1777_*1778insCCT
XM_011521559.1:c.*1777_*1778insCCT	XP_011519861.1:n.*1777_*1778insCCT
XM_011521560.1:c.*1777_*1778insCCT	XP_011519862.1:n.*1777_*1778insCCT
XM_011521559.3:c.*1777_*1778insCCT	XP_011519861.1:n.*1777_*1778insCCT
NM_005902.4:c.*1777_*1778insCCT MANE Select	NP_005893.1:n.*1777_*1778insCCT
NM_001145102.2:c.*1777_*1778insCCT	NP_001138574.1:n.*1777_*1778insCCT
NM_001145103.2:c.*1777_*1778insCCT	NP_001138575.1:n.*1777_*1778insCCT
NM_001145104.2:c.*1777_*1778insCCT	NP_001138576.1:n.*1777_*1778insCCT