Canonical Allele Identifier: CA990256154

Gene: SMAD4

Linked Data

• dbSNP Id: rs1910530740
• gnomAD v3: 18-51078538-T-C
• gnomAD v4: 18-51078538-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078538T>C , CM000680.2:g.51078538T>C	GRCh38
NC_000018.9:g.48604908T>C , CM000680.1:g.48604908T>C	GRCh37
NC_000018.8:g.46858906T>C	NCBI36
NG_013013.2:g.115499T>C , LRG_318:g.115499T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*71T>C	ENSP00000465878.2:n.*71T>C
ENST00000589076.6:c.*71T>C	ENSP00000466934.2:n.*71T>C
ENST00000589941.2:c.*71T>C	ENSP00000465874.2:n.*71T>C
ENST00000590061.2:c.*71T>C	ENSP00000464772.2:n.*71T>C
ENST00000593223.2:c.*1727T>C	ENSP00000466118.2:n.*1727T>C
ENST00000611848.2:c.*382T>C	ENSP00000478613.2:n.*382T>C
ENST00000684953.1:n.3745T>C
ENST00000685090.1:n.3660T>C
ENST00000685232.1:n.1951T>C
ENST00000688574.1:n.1838T>C
ENST00000691124.1:n.4691T>C
ENST00000342988.8:c.*71T>C MANE Select	ENSP00000341551.3:n.*71T>C
ENST00000342988.7:c.*71T>C	ENSP00000341551.3:n.*71T>C
ENST00000398417.6:c.*71T>C	ENSP00000381452.1:n.*71T>C
ENST00000586253.1:n.452T>C
ENST00000591126.5:n.3731T>C
ENST00000611848.1:c.1043T>C
NM_005359.5:c.*71T>C , LRG_318t1:c.*71T>C	NP_005350.1:n.*71T>C
NM_005359.6:c.*71T>C MANE Select	NP_005350.1:n.*71T>C