Canonical Allele Identifier: CA618688314

Gene: SMAD3

Linked Data

• dbSNP Id: rs1008751347
• gnomAD v2: 15-67483547-C-T
• gnomAD v3: 15-67191209-C-T
• gnomAD v4: 15-67191209-C-T
• MyVariant Identifiers: chr15:g.67483547C>T (hg19) ; chr15:g.67191209C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67191209C>T , CM000677.2:g.67191209C>T	GRCh38
NC_000015.9:g.67483547C>T , CM000677.1:g.67483547C>T	GRCh37
NC_000015.8:g.65270601C>T	NCBI36
NG_011990.1:g.130353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.*673C>T	ENSP00000454165.2:n.*673C>T
ENST00000558739.2:c.*673C>T	ENSP00000453684.2:n.*673C>T
ENST00000558827.2:c.*673C>T	ENSP00000452767.2:n.*673C>T
ENST00000559460.6:c.*673C>T	ENSP00000453082.2:n.*673C>T
ENST00000560424.2:c.*673C>T	ENSP00000455540.2:n.*673C>T
ENST00000327367.9:c.*673C>T MANE Select	ENSP00000332973.4:n.*673C>T
ENST00000679624.1:c.*673C>T	ENSP00000505445.1:n.*673C>T
ENST00000681239.1:c.*673C>T	ENSP00000505641.1:n.*673C>T
ENST00000327367.8:c.*673C>T	ENSP00000332973.4:n.*673C>T
ENST00000558763.1:n.1645C>T
ENST00000560402.1:n.283-1664C>T
NM_001145102.1:c.*673C>T	NP_001138574.1:n.*673C>T
NM_001145103.1:c.*673C>T	NP_001138575.1:n.*673C>T
NM_001145104.1:c.*673C>T	NP_001138576.1:n.*673C>T
NM_005902.3:c.*673C>T	NP_005893.1:n.*673C>T
XM_011521559.1:c.*673C>T	XP_011519861.1:n.*673C>T
XM_011521560.1:c.*673C>T	XP_011519862.1:n.*673C>T
XM_011521559.3:c.*673C>T	XP_011519861.1:n.*673C>T
NM_005902.4:c.*673C>T MANE Select	NP_005893.1:n.*673C>T
NM_001145102.2:c.*673C>T	NP_001138574.1:n.*673C>T
NM_001145103.2:c.*673C>T	NP_001138575.1:n.*673C>T
NM_001145104.2:c.*673C>T	NP_001138576.1:n.*673C>T