Canonical Allele Identifier: CA715073593

Gene: SMAD3

Linked Data

• dbSNP Id: rs1451907490
• gnomAD v3: 15-67065920-C-T
• gnomAD v4: 15-67065920-C-T
• MyVariant Identifiers: chr15:g.67358258C>T (hg19) ; chr15:g.67065920C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67065920C>T , CM000677.2:g.67065920C>T	GRCh38
NC_000015.9:g.67358258C>T , CM000677.1:g.67358258C>T	GRCh37
NC_000015.8:g.65145312C>T	NCBI36
NG_011990.1:g.5064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+1976C>T	ENSP00000453082.2:n.-110+1976C>T
ENST00000560424.2:c.-235C>T	ENSP00000455540.2:n.-235C>T
ENST00000327367.9:c.-235C>T MANE Select	ENSP00000332973.4:n.-235C>T
ENST00000327367.8:c.-235C>T	ENSP00000332973.4:n.-235C>T
ENST00000559460.5:c.-110+1976C>T	ENSP00000453082.1:n.-110+1976C>T
NM_005902.3:c.-235C>T	NP_005893.1:n.-235C>T
XM_011521559.1:c.-235C>T	XP_011519861.1:n.-235C>T
NM_005902.4:c.-235C>T MANE Select	NP_005893.1:n.-235C>T