Canonical Allele Identifier: CA061808
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3020638
ClinVar RCV Id: RCV003879797
dbSNP Id: rs766558031
ExAC: 15:67358712 C / G
gnomAD v2: 15-67358712-C-G
gnomAD v3: 15-67066374-C-G
gnomAD v4: 15-67066374-C-G
MyVariant Identifiers: chr15:g.67358712C>G (hg19) chr15:g.67358712_67358713delinsGG (hg19) chr15:g.67066374C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066374C>G , CM000677.2:g.67066374C>G GRCh38
NC_000015.9:g.67358712C>G , CM000677.1:g.67358712C>G GRCh37
NC_000015.8:g.65145766C>G NCBI36
NG_011990.1:g.5518C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2430C>G ENSP00000453082.2:n.-110+2430C>G
ENST00000560424.2:c.206+14C>G ENSP00000455540.2:n.206+14C>G
ENST00000327367.9:c.206+14C>G MANE Select ENSP00000332973.4:n.206+14C>G
ENST00000327367.8:c.206+14C>G ENSP00000332973.4:n.206+14C>G
ENST00000559460.5:c.-110+2430C>G ENSP00000453082.1:n.-110+2430C>G
NM_005902.3:c.206+14C>G NP_005893.1:n.206+14C>G
XM_011521559.1:c.206+14C>G XP_011519861.1:n.206+14C>G
XM_011521559.3:c.206+14C>G XP_011519861.1:n.206+14C>G
NM_005902.4:c.206+14C>G MANE Select NP_005893.1:n.206+14C>G
Search 100 bp 5'
Search 100 bp 3'