Canonical Allele Identifier: CA524345418

Gene: TGFBR3

Linked Data

• dbSNP Id: rs1258753899
• gnomAD v2: 1-92194297-G-A
• gnomAD v3: 1-91728740-G-A
• gnomAD v4: 1-91728740-G-A
• MyVariant Identifiers: chr1:g.92194297G>A (hg19) ; chr1:g.91728740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91728740G>A , CM000663.2:g.91728740G>A	GRCh38
NC_000001.10:g.92194297G>A , CM000663.1:g.92194297G>A	GRCh37
NC_000001.9:g.91966885G>A	NCBI36
NG_027757.1:g.182263C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000212355.9:c.738-934C>T MANE Select	ENSP00000212355.4:n.738-934C>T
ENST00000212355.8:c.738-934C>T	ENSP00000212355.4:n.738-934C>T
ENST00000370399.6:c.738-934C>T	ENSP00000359426.2:n.738-934C>T
ENST00000465892.6:c.738-934C>T	ENSP00000432638.1:n.738-934C>T
ENST00000468996.2:n.540-934C>T
ENST00000525962.5:c.738-934C>T	ENSP00000436127.1:n.738-934C>T
ENST00000532540.5:c.*685-934C>T	ENSP00000434994.1:n.*685-934C>T
ENST00000533089.5:c.*705-934C>T	ENSP00000433477.1:n.*705-934C>T
NM_001195683.1:c.738-934C>T	NP_001182612.1:n.738-934C>T
NM_001195684.1:c.738-934C>T	NP_001182613.1:n.738-934C>T
NM_003243.4:c.738-934C>T	NP_003234.2:n.738-934C>T
NR_036634.1:n.1350-934C>T
XM_006710867.1:c.738-934C>T	XP_006710930.1:n.738-934C>T
XM_006710868.1:c.738-934C>T	XP_006710931.1:n.738-934C>T
XM_011542058.1:c.72-934C>T	XP_011540360.1:n.72-934C>T
XM_006710867.2:c.738-934C>T	XP_006710930.1:n.738-934C>T
NM_003243.5:c.738-934C>T MANE Select	NP_003234.2:n.738-934C>T
NM_001195683.2:c.738-934C>T	NP_001182612.1:n.738-934C>T
NR_036634.2:n.1222-934C>T