Canonical Allele Identifier: CA174441

Gene: TGFBR3

Linked Data

• ClinVar Variation Id: 161609
• ClinVar RCV Id: RCV000149145 ; RCV001327953 ; RCV004019786
• dbSNP Id: rs193920827
• ExAC: 1:92149333 G / A
• gnomAD v2: 1-92149333-G-A
• gnomAD v3: 1-91683776-G-A
• gnomAD v4: 1-91683776-G-A
• COSMIC: COSM1179616
• MyVariant Identifiers: chr1:g.92149333G>A (hg19) ; chr1:g.91683776G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91683776G>A , CM000663.2:g.91683776G>A	GRCh38
NC_000001.10:g.92149333G>A , CM000663.1:g.92149333G>A	GRCh37
NC_000001.9:g.91921921G>A	NCBI36
NG_027757.1:g.227227C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000212355.9:c.2519C>T MANE Select	ENSP00000212355.4:p.Thr840Met
ENST00000212355.8:c.2519C>T	ENSP00000212355.4:p.Thr840Met
ENST00000370399.6:c.2516C>T	ENSP00000359426.2:p.Thr839Met
ENST00000465892.6:c.2516C>T	ENSP00000432638.1:p.Thr839Met
ENST00000525962.5:c.2519C>T	ENSP00000436127.1:p.Thr840Met
ENST00000532540.5:c.*2466C>T	ENSP00000434994.1:n.*2466C>T
ENST00000533089.5:c.*2237C>T	ENSP00000433477.1:n.*2237C>T
NM_001195683.1:c.2516C>T	NP_001182612.1:p.Thr839Met
NM_001195684.1:c.2516C>T	NP_001182613.1:p.Thr839Met
NM_003243.4:c.2519C>T	NP_003234.2:p.Thr840Met
NR_036634.1:n.3131C>T
XM_006710867.1:c.2519C>T	XP_006710930.1:p.Thr840Met
XM_006710868.1:c.2519C>T	XP_006710931.1:p.Thr840Met
XM_011542058.1:c.1853C>T	XP_011540360.1:p.Thr618Met
XM_006710867.2:c.2519C>T	XP_006710930.1:p.Thr840Met
NM_003243.5:c.2519C>T MANE Select	NP_003234.2:p.Thr840Met
NM_001195683.2:c.2516C>T	NP_001182612.1:p.Thr839Met
NR_036634.2:n.3003C>T