Canonical Allele Identifier: CA26713063
Gene: TGFBR3 HGNC NCBI

Linked Data

dbSNP Id: rs17131547
gnomAD v2: 1-92211020-G-A
gnomAD v3: 1-91745463-G-A
gnomAD v4: 1-91745463-G-A
MyVariant Identifiers: chr1:g.92211020G>A (hg19) chr1:g.91745463G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.91745463G>A , CM000663.2:g.91745463G>A GRCh38
NC_000001.10:g.92211020G>A , CM000663.1:g.92211020G>A GRCh37
NC_000001.9:g.91983608G>A NCBI36
NG_027757.1:g.165540C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000212355.9:c.385-10504C>T MANE Select ENSP00000212355.4:n.385-10504C>T
ENST00000212355.8:c.385-10504C>T ENSP00000212355.4:n.385-10504C>T
ENST00000370399.6:c.385-10504C>T ENSP00000359426.2:n.385-10504C>T
ENST00000465892.6:c.385-10504C>T ENSP00000432638.1:n.385-10504C>T
ENST00000468996.2:n.187-10504C>T
ENST00000525962.5:c.385-10504C>T ENSP00000436127.1:n.385-10504C>T
ENST00000532540.5:c.*332-10504C>T ENSP00000434994.1:n.*332-10504C>T
ENST00000533089.5:c.*412+9532C>T ENSP00000433477.1:n.*412+9532C>T
NM_001195683.1:c.385-10504C>T NP_001182612.1:n.385-10504C>T
NM_001195684.1:c.385-10504C>T NP_001182613.1:n.385-10504C>T
NM_003243.4:c.385-10504C>T NP_003234.2:n.385-10504C>T
NR_036634.1:n.997-10504C>T
XM_006710867.1:c.385-10504C>T XP_006710930.1:n.385-10504C>T
XM_006710868.1:c.385-10504C>T XP_006710931.1:n.385-10504C>T
XM_011542058.1:c.-282-10504C>T XP_011540360.1:n.-282-10504C>T
XM_006710867.2:c.385-10504C>T XP_006710930.1:n.385-10504C>T
NM_003243.5:c.385-10504C>T MANE Select NP_003234.2:n.385-10504C>T
NM_001195683.2:c.385-10504C>T NP_001182612.1:n.385-10504C>T
NR_036634.2:n.869-10504C>T
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