Canonical Allele Identifier: CA9459990
Gene: TGFB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1467482
ClinVar RCV Id: RCV001970416
dbSNP Id: rs146182311
ExAC: 19:41847857 G / A
gnomAD v2: 19-41847857-G-A
gnomAD v3: 19-41341952-G-A
gnomAD v4: 19-41341952-G-A
MyVariant Identifiers: chr19:g.41847857G>A (hg19) chr19:g.41341952G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41341952G>A , CM000681.2:g.41341952G>A GRCh38
NC_000019.9:g.41847857G>A , CM000681.1:g.41847857G>A GRCh37
NC_000019.8:g.46539697G>A NCBI36
NG_013364.1:g.16975C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.791C>T MANE Select ENSP00000221930.4:p.Pro264Leu
ENST00000600196.2:c.712+218C>T ENSP00000504008.1:n.712+218C>T
ENST00000677934.1:c.634+2795C>T ENSP00000504769.1:n.634+2795C>T
ENST00000221930.5:c.791C>T ENSP00000221930.4:p.Pro264Leu
ENST00000598758.5:c.79C>T
ENST00000600196.1:n.172+218C>T
NM_000660.5:c.791C>T NP_000651.3:p.Pro264Leu
XM_011527242.1:c.794C>T XP_011525544.1:p.Pro265Leu
NM_000660.6:c.791C>T NP_000651.3:p.Pro264Leu
XM_011527242.2:c.794C>T XP_011525544.1:p.Pro265Leu
NM_000660.7:c.791C>T MANE Select NP_000651.3:p.Pro264Leu
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