Canonical Allele Identifier: CA524589098

Gene: TGFBR3

Linked Data

• dbSNP Id: rs1331785086
• gnomAD v2: 1-92332422-A-G
• gnomAD v3: 1-91866865-A-G
• gnomAD v4: 1-91866865-A-G
• MyVariant Identifiers: chr1:g.92332422A>G (hg19) ; chr1:g.91866865A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91866865A>G , CM000663.2:g.91866865A>G	GRCh38
NC_000001.10:g.92332422A>G , CM000663.1:g.92332422A>G	GRCh37
NC_000001.9:g.92105010A>G	NCBI36
NG_027757.1:g.44138T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000212355.9:c.-113-5221T>C MANE Select	ENSP00000212355.4:n.-113-5221T>C
ENST00000212355.8:c.-113-5221T>C	ENSP00000212355.4:n.-113-5221T>C
ENST00000370399.6:c.-113-5221T>C	ENSP00000359426.2:n.-113-5221T>C
ENST00000417833.2:c.-200-23T>C	ENSP00000395975.2:n.-200-23T>C
ENST00000465892.6:c.-113-5221T>C	ENSP00000432638.1:n.-113-5221T>C
ENST00000532540.5:c.-113-5221T>C	ENSP00000434994.1:n.-113-5221T>C
ENST00000533370.1:n.123-2586T>C
NM_001195683.1:c.-113-5221T>C	NP_001182612.1:n.-113-5221T>C
NM_001195684.1:c.-113-5221T>C	NP_001182613.1:n.-113-5221T>C
NM_003243.4:c.-113-5221T>C	NP_003234.2:n.-113-5221T>C
NR_036634.1:n.403-5221T>C
XM_006710867.1:c.-113-5221T>C	XP_006710930.1:n.-113-5221T>C
XM_006710867.2:c.-113-5221T>C	XP_006710930.1:n.-113-5221T>C
NM_003243.5:c.-113-5221T>C MANE Select	NP_003234.2:n.-113-5221T>C
NM_001195683.2:c.-113-5221T>C	NP_001182612.1:n.-113-5221T>C
NR_036634.2:n.275-5221T>C