Canonical Allele Identifier: CA10646498

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 316857
• ClinVar RCV Id: RCV000311524 ; RCV000371327
• dbSNP Id: rs886051378
• gnomAD v3: 15-67065991-A-C
• gnomAD v4: 15-67065991-A-C
• MyVariant Identifiers: chr15:g.67358329A>C (hg19) ; chr15:g.67065991A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67065991A>C , CM000677.2:g.67065991A>C	GRCh38
NC_000015.9:g.67358329A>C , CM000677.1:g.67358329A>C	GRCh37
NC_000015.8:g.65145383A>C	NCBI36
NG_011990.1:g.5135A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559460.6:c.-110+2047A>C	ENSP00000453082.2:n.-110+2047A>C
ENST00000560424.2:c.-164A>C	ENSP00000455540.2:n.-164A>C
ENST00000327367.9:c.-164A>C MANE Select	ENSP00000332973.4:n.-164A>C
ENST00000327367.8:c.-164A>C	ENSP00000332973.4:n.-164A>C
ENST00000559460.5:c.-110+2047A>C	ENSP00000453082.1:n.-110+2047A>C
NM_005902.3:c.-164A>C	NP_005893.1:n.-164A>C
XM_011521559.1:c.-164A>C	XP_011519861.1:n.-164A>C
NM_005902.4:c.-164A>C MANE Select	NP_005893.1:n.-164A>C