Canonical Allele Identifier: CA313550700

Gene: THBD

Linked Data

• ClinVar Variation Id: 2113459
• ClinVar RCV Id: RCV003038785 ; RCV003250702
• dbSNP Id: rs1020559145
• gnomAD v2: 20-23028733-G-A
• gnomAD v3: 20-23048096-G-A
• gnomAD v4: 20-23048096-G-A
• MyVariant Identifiers: chr20:g.23028733G>A (hg19) ; chr20:g.23048096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23048096G>A , CM000682.2:g.23048096G>A	GRCh38
NC_000020.10:g.23028733G>A , CM000682.1:g.23028733G>A	GRCh37
NC_000020.9:g.22976733G>A	NCBI36
NG_012027.1:g.6569C>T , LRG_168:g.6569C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377103.3:c.1409C>T MANE Select	ENSP00000366307.2:p.Ser470Leu
ENST00000377103.2:c.1409C>T	ENSP00000366307.2:p.Ser470Leu
NM_000361.2:c.1409C>T , LRG_168t1:c.1409C>T	NP_000352.1:p.Ser470Leu
NM_000361.3:c.1409C>T MANE Select	NP_000352.1:p.Ser470Leu