Canonical Allele Identifier: CA948193
Gene: TGFBR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3060183
ClinVar RCV Id: RCV003982212
dbSNP Id: rs1805110
ExAC: 1:92327045 G / A
gnomAD v2: 1-92327045-G-A
gnomAD v3: 1-91861488-G-A
gnomAD v4: 1-91861488-G-A
MyVariant Identifiers: chr1:g.92327045G>A (hg19) chr1:g.91861488G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.91861488G>A , CM000663.2:g.91861488G>A GRCh38
NC_000001.10:g.92327045G>A , CM000663.1:g.92327045G>A GRCh37
NC_000001.9:g.92099633G>A NCBI36
NG_027757.1:g.49515C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000212355.9:c.44C>T MANE Select ENSP00000212355.4:p.Ser15Phe
ENST00000212355.8:c.44C>T ENSP00000212355.4:p.Ser15Phe
ENST00000370399.6:c.44C>T ENSP00000359426.2:p.Ser15Phe
ENST00000417833.2:c.44C>T ENSP00000395975.2:p.Ser15Phe
ENST00000465892.6:c.44C>T ENSP00000432638.1:p.Ser15Phe
ENST00000525962.5:c.44C>T ENSP00000436127.1:p.Ser15Phe
ENST00000532540.5:c.44C>T ENSP00000434994.1:p.Ser15Phe
ENST00000533089.5:c.44C>T ENSP00000433477.1:p.Ser15Phe
NM_001195683.1:c.44C>T NP_001182612.1:p.Ser15Phe
NM_001195684.1:c.44C>T NP_001182613.1:p.Ser15Phe
NM_003243.4:c.44C>T NP_003234.2:p.Ser15Phe
NR_036634.1:n.559C>T
XM_006710867.1:c.44C>T XP_006710930.1:p.Ser15Phe
XM_006710868.1:c.44C>T XP_006710931.1:p.Ser15Phe
XM_006710867.2:c.44C>T XP_006710930.1:p.Ser15Phe
NM_003243.5:c.44C>T MANE Select NP_003234.2:p.Ser15Phe
NM_001195683.2:c.44C>T NP_001182612.1:p.Ser15Phe
NR_036634.2:n.431C>T
Search 100 bp 5'
Search 100 bp 3'