Canonical Allele Identifier: CA116972

Gene: TBX20

Linked Data

• ClinVar Variation Id: 4632
• ClinVar RCV Id: RCV000004895 ; RCV001753401 ; RCV002336076
• dbSNP Id: rs137852954
• ExAC: 7:35288378 G / C
• gnomAD v2: 7-35288378-G-C
• gnomAD v3: 7-35248766-G-C
• gnomAD v4: 7-35248766-G-C
• MyVariant Identifiers: chr7:g.35288378G>C (hg19) ; chr7:g.35248766G>C (hg38)
• PubMed: PMID:17668378

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.35248766G>C , CM000669.2:g.35248766G>C	GRCh38
NC_000007.13:g.35288378G>C , CM000669.1:g.35288378G>C	GRCh37
NC_000007.12:g.35254903G>C	NCBI36
NG_015805.1:g.10334C>G , LRG_755:g.10334C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000408931.4:c.456C>G MANE Select	ENSP00000386170.3:p.Ile152Met
ENST00000408931.3:c.456C>G	ENSP00000386170.3:p.Ile152Met
ENST00000492961.1:n.467C>G
NM_001077653.2:c.456C>G , LRG_755t1:c.456C>G MANE Select	NP_001071121.1:p.Ile152Met
NM_001166220.1:c.456C>G	NP_001159692.1:p.Ile152Met
XM_017012456.1:c.-3018C>G	XP_016867945.1:n.-3018C>G