Canonical Allele Identifier: CA633153841

Gene: TGFB1

Linked Data

• dbSNP Id: rs936710806
• gnomAD v2: 19-41843402-C-A
• gnomAD v3: 19-41337497-C-A
• gnomAD v4: 19-41337497-C-A
• MyVariant Identifiers: chr19:g.41843402C>A (hg19) ; chr19:g.41337497C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41337497C>A , CM000681.2:g.41337497C>A	GRCh38
NC_000019.9:g.41843402C>A , CM000681.1:g.41843402C>A	GRCh37
NC_000019.8:g.46535242C>A	NCBI36
NG_013364.1:g.21430G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.860+4386G>T MANE Select	ENSP00000221930.4:n.860+4386G>T
ENST00000600196.2:c.712+4673G>T	ENSP00000504008.1:n.712+4673G>T
ENST00000677934.1:c.635-5216G>T	ENSP00000504769.1:n.635-5216G>T
ENST00000221930.5:c.860+4386G>T	ENSP00000221930.4:n.860+4386G>T
ENST00000598758.5:c.148+4386G>T
ENST00000600196.1:n.172+4673G>T
NM_000660.5:c.860+4386G>T	NP_000651.3:n.860+4386G>T
XM_011527242.1:c.863+4386G>T	XP_011525544.1:n.863+4386G>T
NM_000660.6:c.860+4386G>T	NP_000651.3:n.860+4386G>T
XM_011527242.2:c.863+4386G>T	XP_011525544.1:n.863+4386G>T
NM_000660.7:c.860+4386G>T MANE Select	NP_000651.3:n.860+4386G>T