Canonical Allele Identifier: CA402458056

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51047254-A-C
• MyVariant Identifiers: chr18:g.48573624A>C (hg19) ; chr18:g.51047254A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047254A>C , CM000680.2:g.51047254A>C	GRCh38
NC_000018.9:g.48573624A>C , CM000680.1:g.48573624A>C	GRCh37
NC_000018.8:g.46827622A>C	NCBI36
NG_013013.2:g.84215A>C , LRG_318:g.84215A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.208A>C	ENSP00000465878.2:p.Lys70Gln
ENST00000589076.6:c.208A>C	ENSP00000466934.2:p.Lys70Gln
ENST00000589941.2:c.208A>C	ENSP00000465874.2:p.Lys70Gln
ENST00000590061.2:c.208A>C	ENSP00000464772.2:p.Lys70Gln
ENST00000593223.2:c.208A>C	ENSP00000466118.2:p.Lys70Gln
ENST00000611848.2:c.208A>C	ENSP00000478613.2:p.Lys70Gln
ENST00000342988.8:c.208A>C MANE Select	ENSP00000341551.3:p.Lys70Gln
ENST00000342988.7:c.208A>C	ENSP00000341551.3:p.Lys70Gln
ENST00000398417.6:c.208A>C	ENSP00000381452.1:p.Lys70Gln
ENST00000588745.5:c.208A>C	ENSP00000464901.1:p.Lys70Gln
ENST00000588860.5:c.208A>C	ENSP00000465878.1:p.Lys70Gln
ENST00000589076.5:c.208A>C	ENSP00000466934.1:p.Lys70Gln
ENST00000589706.1:n.76A>C
ENST00000589941.1:c.208A>C	ENSP00000465874.1:p.Lys70Gln
ENST00000590061.1:c.208A>C	ENSP00000464772.1:p.Lys70Gln
ENST00000590722.2:c.*231A>C	ENSP00000465737.1:n.*231A>C
ENST00000591914.5:c.208A>C	ENSP00000466941.1:p.Lys70Gln
ENST00000592186.5:c.208A>C	ENSP00000468611.1:p.Lys70Gln
ENST00000592911.5:n.28-1432A>C
NM_005359.5:c.208A>C , LRG_318t1:c.208A>C	NP_005350.1:p.Lys70Gln
NM_005359.6:c.208A>C MANE Select	NP_005350.1:p.Lys70Gln