Canonical Allele Identifier: CA10646490

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 316854
• ClinVar RCV Id: RCV000286014 ; RCV000345700
• dbSNP Id: rs886051375
• gnomAD v4: 15-67065915-G-T
• MyVariant Identifiers: chr15:g.67358253G>T (hg19) ; chr15:g.67065915G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67065915G>T , CM000677.2:g.67065915G>T	GRCh38
NC_000015.9:g.67358253G>T , CM000677.1:g.67358253G>T	GRCh37
NC_000015.8:g.65145307G>T	NCBI36
NG_011990.1:g.5059G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559460.6:c.-110+1971G>T	ENSP00000453082.2:n.-110+1971G>T
ENST00000560424.2:c.-240G>T	ENSP00000455540.2:n.-240G>T
ENST00000327367.9:c.-240G>T MANE Select	ENSP00000332973.4:n.-240G>T
ENST00000327367.8:c.-240G>T	ENSP00000332973.4:n.-240G>T
ENST00000559460.5:c.-110+1971G>T	ENSP00000453082.1:n.-110+1971G>T
NM_005902.3:c.-240G>T	NP_005893.1:n.-240G>T
XM_011521559.1:c.-240G>T	XP_011519861.1:n.-240G>T
NM_005902.4:c.-240G>T MANE Select	NP_005893.1:n.-240G>T