Canonical Allele Identifier: CA10986374

Gene: TGFBR3

Linked Data

• dbSNP Id: rs1488692
• gnomAD v2: 1-92332527-C-T
• gnomAD v3: 1-91866970-C-T
• gnomAD v4: 1-91866970-C-T
• MyVariant Identifiers: chr1:g.92332527C>T (hg19) ; chr1:g.91866970C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91866970C>T , CM000663.2:g.91866970C>T	GRCh38
NC_000001.10:g.92332527C>T , CM000663.1:g.92332527C>T	GRCh37
NC_000001.9:g.92105115C>T	NCBI36
NG_027757.1:g.44033G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000212355.9:c.-113-5326G>A MANE Select	ENSP00000212355.4:n.-113-5326G>A
ENST00000212355.8:c.-113-5326G>A	ENSP00000212355.4:n.-113-5326G>A
ENST00000370399.6:c.-113-5326G>A	ENSP00000359426.2:n.-113-5326G>A
ENST00000417833.2:c.-200-128G>A	ENSP00000395975.2:n.-200-128G>A
ENST00000465892.6:c.-113-5326G>A	ENSP00000432638.1:n.-113-5326G>A
ENST00000532540.5:c.-113-5326G>A	ENSP00000434994.1:n.-113-5326G>A
ENST00000533370.1:n.123-2691G>A
NM_001195683.1:c.-113-5326G>A	NP_001182612.1:n.-113-5326G>A
NM_001195684.1:c.-113-5326G>A	NP_001182613.1:n.-113-5326G>A
NM_003243.4:c.-113-5326G>A	NP_003234.2:n.-113-5326G>A
NR_036634.1:n.403-5326G>A
XM_006710867.1:c.-113-5326G>A	XP_006710930.1:n.-113-5326G>A
XM_006710867.2:c.-113-5326G>A	XP_006710930.1:n.-113-5326G>A
NM_003243.5:c.-113-5326G>A MANE Select	NP_003234.2:n.-113-5326G>A
NM_001195683.2:c.-113-5326G>A	NP_001182612.1:n.-113-5326G>A
NR_036634.2:n.275-5326G>A