Canonical Allele Identifier: CA633470005

Gene: TGFB1

Linked Data

• dbSNP Id: rs1234076816
• gnomAD v2: 19-41847764-CTCCA-C
• gnomAD v4: 19-41341859-CTCCA-C
• MyVariant Identifiers: chr19:g.41847765_41847768del (hg19) ; chr19:g.41341860_41341863del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341864_41341867del , CM000681.2:g.41341864_41341867del	GRCh38
NC_000019.9:g.41847769_41847772del , CM000681.1:g.41847769_41847772del	GRCh37
NC_000019.8:g.46539609_46539612del	NCBI36
NG_013364.1:g.17064_17067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.860+20_860+23del MANE Select	ENSP00000221930.4:n.860+20_860+23del
ENST00000600196.2:c.712+307_712+310del	ENSP00000504008.1:n.712+307_712+310del
ENST00000677934.1:c.634+2884_634+2887del	ENSP00000504769.1:n.634+2884_634+2887del
ENST00000221930.5:c.860+20_860+23del	ENSP00000221930.4:n.860+20_860+23del
ENST00000598758.5:c.148+20_148+23del
ENST00000600196.1:n.172+307_172+310del
NM_000660.5:c.860+20_860+23del	NP_000651.3:n.860+20_860+23del
XM_011527242.1:c.863+20_863+23del	XP_011525544.1:n.863+20_863+23del
NM_000660.6:c.860+20_860+23del	NP_000651.3:n.860+20_860+23del
XM_011527242.2:c.863+20_863+23del	XP_011525544.1:n.863+20_863+23del
NM_000660.7:c.860+20_860+23del MANE Select	NP_000651.3:n.860+20_860+23del