Canonical Allele Identifier: CA618688350

Gene: SMAD3

Linked Data

• dbSNP Id: rs1354914675
• gnomAD v2: 15-67484559-T-C
• gnomAD v3: 15-67192221-T-C
• gnomAD v4: 15-67192221-T-C
• MyVariant Identifiers: chr15:g.67484559T>C (hg19) ; chr15:g.67192221T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67192221T>C , CM000677.2:g.67192221T>C	GRCh38
NC_000015.9:g.67484559T>C , CM000677.1:g.67484559T>C	GRCh37
NC_000015.8:g.65271613T>C	NCBI36
NG_011990.1:g.131365T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.*1685T>C	ENSP00000453684.2:n.*1685T>C
ENST00000559460.6:c.*1685T>C	ENSP00000453082.2:n.*1685T>C
ENST00000327367.9:c.*1685T>C MANE Select	ENSP00000332973.4:n.*1685T>C
ENST00000679624.1:c.*1685T>C	ENSP00000505445.1:n.*1685T>C
ENST00000681239.1:c.*1685T>C	ENSP00000505641.1:n.*1685T>C
ENST00000327367.8:c.*1685T>C	ENSP00000332973.4:n.*1685T>C
ENST00000560402.1:n.283-652T>C
NM_001145102.1:c.*1685T>C	NP_001138574.1:n.*1685T>C
NM_001145103.1:c.*1685T>C	NP_001138575.1:n.*1685T>C
NM_001145104.1:c.*1685T>C	NP_001138576.1:n.*1685T>C
NM_005902.3:c.*1685T>C	NP_005893.1:n.*1685T>C
XM_011521559.1:c.*1685T>C	XP_011519861.1:n.*1685T>C
XM_011521560.1:c.*1685T>C	XP_011519862.1:n.*1685T>C
XM_011521559.3:c.*1685T>C	XP_011519861.1:n.*1685T>C
NM_005902.4:c.*1685T>C MANE Select	NP_005893.1:n.*1685T>C
NM_001145102.2:c.*1685T>C	NP_001138574.1:n.*1685T>C
NM_001145103.2:c.*1685T>C	NP_001138575.1:n.*1685T>C
NM_001145104.2:c.*1685T>C	NP_001138576.1:n.*1685T>C