Canonical Allele Identifier: CA524342024

Gene: TGFBR3

Linked Data

• dbSNP Id: rs1216171735
• gnomAD v2: 1-92170578-A-G
• gnomAD v3: 1-91705021-A-G
• gnomAD v4: 1-91705021-A-G
• MyVariant Identifiers: chr1:g.92170578A>G (hg19) ; chr1:g.91705021A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91705021A>G , CM000663.2:g.91705021A>G	GRCh38
NC_000001.10:g.92170578A>G , CM000663.1:g.92170578A>G	GRCh37
NC_000001.9:g.91943166A>G	NCBI36
NG_027757.1:g.205982T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000212355.9:c.2287+3642T>C MANE Select	ENSP00000212355.4:n.2287+3642T>C
ENST00000212355.8:c.2287+3642T>C	ENSP00000212355.4:n.2287+3642T>C
ENST00000370399.6:c.2284+3642T>C	ENSP00000359426.2:n.2284+3642T>C
ENST00000465892.6:c.2284+3642T>C	ENSP00000432638.1:n.2284+3642T>C
ENST00000470600.1:n.242+3642T>C
ENST00000525962.5:c.2287+3642T>C	ENSP00000436127.1:n.2287+3642T>C
ENST00000532540.5:c.*2234+3642T>C	ENSP00000434994.1:n.*2234+3642T>C
ENST00000533089.5:c.*2005+3642T>C	ENSP00000433477.1:n.*2005+3642T>C
NM_001195683.1:c.2284+3642T>C	NP_001182612.1:n.2284+3642T>C
NM_001195684.1:c.2284+3642T>C	NP_001182613.1:n.2284+3642T>C
NM_003243.4:c.2287+3642T>C	NP_003234.2:n.2287+3642T>C
NR_036634.1:n.2899+3642T>C
XM_006710867.1:c.2287+3642T>C	XP_006710930.1:n.2287+3642T>C
XM_006710868.1:c.2287+3642T>C	XP_006710931.1:n.2287+3642T>C
XM_011542058.1:c.1621+3642T>C	XP_011540360.1:n.1621+3642T>C
XM_006710867.2:c.2287+3642T>C	XP_006710930.1:n.2287+3642T>C
NM_003243.5:c.2287+3642T>C MANE Select	NP_003234.2:n.2287+3642T>C
NM_001195683.2:c.2284+3642T>C	NP_001182612.1:n.2284+3642T>C
NR_036634.2:n.2771+3642T>C