Canonical Allele Identifier: CA2641836270

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51046868-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51046868C>G , CM000680.2:g.51046868C>G	GRCh38
NC_000018.9:g.48573238C>G , CM000680.1:g.48573238C>G	GRCh37
NC_000018.8:g.46827236C>G	NCBI36
NG_013013.2:g.83829C>G , LRG_318:g.83829C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.-127-52C>G	ENSP00000465878.2:n.-127-52C>G
ENST00000589076.6:c.-127-52C>G	ENSP00000466934.2:n.-127-52C>G
ENST00000589941.2:c.-127-52C>G	ENSP00000465874.2:n.-127-52C>G
ENST00000590061.2:c.-59-120C>G	ENSP00000464772.2:n.-59-120C>G
ENST00000593223.2:c.-127-52C>G	ENSP00000466118.2:n.-127-52C>G
ENST00000342988.8:c.-127-52C>G MANE Select	ENSP00000341551.3:n.-127-52C>G
ENST00000342988.7:c.-127-52C>G	ENSP00000341551.3:n.-127-52C>G
ENST00000398417.6:c.-127-52C>G	ENSP00000381452.1:n.-127-52C>G
ENST00000588256.1:n.335-52C>G
ENST00000588860.5:c.-127-52C>G	ENSP00000465878.1:n.-127-52C>G
ENST00000589076.5:c.-127-52C>G	ENSP00000466934.1:n.-127-52C>G
ENST00000589941.1:c.-127-52C>G	ENSP00000465874.1:n.-127-52C>G
ENST00000590061.1:c.-59-120C>G	ENSP00000464772.1:n.-59-120C>G
ENST00000590722.2:c.158-52C>G	ENSP00000465737.1:n.158-52C>G
ENST00000591914.5:c.-127-52C>G	ENSP00000466941.1:n.-127-52C>G
ENST00000592911.5:n.28-1818C>G
NM_005359.5:c.-127-52C>G , LRG_318t1:c.-127-52C>G	NP_005350.1:n.-127-52C>G
NM_005359.6:c.-127-52C>G MANE Select	NP_005350.1:n.-127-52C>G