Canonical Allele Identifier: CA618961963
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2972403
ClinVar RCV Id: RCV003835529
dbSNP Id: rs1183571536
gnomAD v2: 15-67358706-C-T
gnomAD v4: 15-67066368-C-T
MyVariant Identifiers: chr15:g.67358706C>T (hg19) chr15:g.67066368C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066368C>T , CM000677.2:g.67066368C>T GRCh38
NC_000015.9:g.67358706C>T , CM000677.1:g.67358706C>T GRCh37
NC_000015.8:g.65145760C>T NCBI36
NG_011990.1:g.5512C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2424C>T ENSP00000453082.2:n.-110+2424C>T
ENST00000560424.2:c.206+8C>T ENSP00000455540.2:n.206+8C>T
ENST00000327367.9:c.206+8C>T MANE Select ENSP00000332973.4:n.206+8C>T
ENST00000327367.8:c.206+8C>T ENSP00000332973.4:n.206+8C>T
ENST00000559460.5:c.-110+2424C>T ENSP00000453082.1:n.-110+2424C>T
NM_005902.3:c.206+8C>T NP_005893.1:n.206+8C>T
XM_011521559.1:c.206+8C>T XP_011519861.1:n.206+8C>T
XM_011521559.3:c.206+8C>T XP_011519861.1:n.206+8C>T
NM_005902.4:c.206+8C>T MANE Select NP_005893.1:n.206+8C>T
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