Canonical Allele Identifier: CA408405270

Gene: THBD

Linked Data

• dbSNP Id: rs1243541360
• gnomAD v2: 20-23028577-G-A
• gnomAD v3: 20-23047940-G-A
• gnomAD v4: 20-23047940-G-A
• COSMIC: COSM3544687
• MyVariant Identifiers: chr20:g.23028577G>A (hg19) ; chr20:g.23047940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047940G>A , CM000682.2:g.23047940G>A	GRCh38
NC_000020.10:g.23028577G>A , CM000682.1:g.23028577G>A	GRCh37
NC_000020.9:g.22976577G>A	NCBI36
NG_012027.1:g.6725C>T , LRG_168:g.6725C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1565C>T MANE Select	ENSP00000366307.2:p.Ser522Phe
ENST00000377103.2:c.1565C>T	ENSP00000366307.2:p.Ser522Phe
NM_000361.2:c.1565C>T , LRG_168t1:c.1565C>T	NP_000352.1:p.Ser522Phe
NM_000361.3:c.1565C>T MANE Select	NP_000352.1:p.Ser522Phe