Canonical Allele Identifier: CA308515019

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 1225478
• ClinVar RCV Id: RCV001611044
• dbSNP Id: rs200142508
• gnomAD v2: 19-41853892-CTGGGCGTGG-C
• gnomAD v3: 19-41347987-CTGGGCGTGG-C
• gnomAD v4: 19-41347987-CTGGGCGTGG-C
• MyVariant Identifiers: chr19:g.41853893_41853901del (hg19) ; chr19:g.41347988_41347996del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41347991_41347999del , CM000681.2:g.41347991_41347999del	GRCh38
NC_000019.9:g.41853896_41853904del , CM000681.1:g.41853896_41853904del	GRCh37
NC_000019.8:g.46545736_46545744del	NCBI36
NG_013364.1:g.10931_10939del

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.516+299_516+307del MANE Select	ENSP00000221930.4:n.516+299_516+307del
ENST00000600196.2:c.516+299_516+307del	ENSP00000504008.1:n.516+299_516+307del
ENST00000677934.1:c.516+299_516+307del	ENSP00000504769.1:n.516+299_516+307del
ENST00000221930.5:c.516+299_516+307del	ENSP00000221930.4:n.516+299_516+307del
ENST00000597453.1:n.47+299_47+307del
NM_000660.5:c.516+299_516+307del	NP_000651.3:n.516+299_516+307del
XM_011527242.1:c.516+299_516+307del	XP_011525544.1:n.516+299_516+307del
NM_000660.6:c.516+299_516+307del	NP_000651.3:n.516+299_516+307del
XM_011527242.2:c.516+299_516+307del	XP_011525544.1:n.516+299_516+307del
NM_000660.7:c.516+299_516+307del MANE Select	NP_000651.3:n.516+299_516+307del