Canonical Allele Identifier: CA14104740
Gene: SMAD3 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.67078107G>A
GRCh37 chr15:g.67370445G>A
gnomAD v2:
15:67370445 G / A
gnomAD v3:
15:67078107 G / A
gnomAD v4:
chr15-67078107-G-A
Joint Max Group AF 0.63136796 (SAS)
Genomes Max Group AF 0.63136796 (SAS)
Exomes Max Group AF 0.31362315 (NFE)
dbSNP:
12901499
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67078107G>A , CM000677.2:g.67078107G>A GRCh38
NC_000015.9:g.67370445G>A , CM000677.1:g.67370445G>A GRCh37
NC_000015.8:g.65157499G>A NCBI36
NG_011990.1:g.17251G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+14163G>A ENSP00000453082.2:n.-110+14163G>A
ENST00000560424.2:c.206+11747G>A ENSP00000455540.2:n.206+11747G>A
ENST00000327367.9:c.206+11747G>A MANE Select ENSP00000332973.4:n.206+11747G>A
ENST00000679624.1:c.-110+10194G>A ENSP00000505445.1:n.-110+10194G>A
ENST00000327367.8:c.206+11747G>A ENSP00000332973.4:n.206+11747G>A
ENST00000559460.5:c.-110+14163G>A ENSP00000453082.1:n.-110+14163G>A
ENST00000559937.1:n.56+66G>A
NM_005902.3:c.206+11747G>A NP_005893.1:n.206+11747G>A
XM_011521559.1:c.206+11747G>A XP_011519861.1:n.206+11747G>A
XM_011521559.3:c.206+11747G>A XP_011519861.1:n.206+11747G>A
NM_005902.4:c.206+11747G>A MANE Select NP_005893.1:n.206+11747G>A
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