Canonical Allele Identifier: CA9460008

Gene: TGFB1

Linked Data

• dbSNP Id: rs763345073
• ExAC: 19:41847956 G / A
• gnomAD v2: 19-41847956-G-A
• gnomAD v3: 19-41342051-G-A
• gnomAD v4: 19-41342051-G-A
• MyVariant Identifiers: chr19:g.41847956G>A (hg19) ; chr19:g.41342051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342051G>A , CM000681.2:g.41342051G>A	GRCh38
NC_000019.9:g.41847956G>A , CM000681.1:g.41847956G>A	GRCh37
NC_000019.8:g.46539796G>A	NCBI36
NG_013364.1:g.16876C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.713-21C>T MANE Select	ENSP00000221930.4:n.713-21C>T
ENST00000600196.2:c.712+119C>T	ENSP00000504008.1:n.712+119C>T
ENST00000677934.1:c.634+2696C>T	ENSP00000504769.1:n.634+2696C>T
ENST00000221930.5:c.713-21C>T	ENSP00000221930.4:n.713-21C>T
ENST00000597453.1:n.362C>T
ENST00000600196.1:n.172+119C>T
NM_000660.5:c.713-21C>T	NP_000651.3:n.713-21C>T
XM_011527242.1:c.713-18C>T	XP_011525544.1:n.713-18C>T
NM_000660.6:c.713-21C>T	NP_000651.3:n.713-21C>T
XM_011527242.2:c.713-18C>T	XP_011525544.1:n.713-18C>T
NM_000660.7:c.713-21C>T MANE Select	NP_000651.3:n.713-21C>T