Canonical Allele Identifier: CA204467

Gene: CSTA

Linked Data

• ClinVar Variation Id: 208473
• ClinVar RCV Id: RCV000190495 ; RCV001731426
• dbSNP Id: rs149474339
• ExAC: 3:122060289 C / T
• gnomAD v2: 3-122060289-C-T
• gnomAD v3: 3-122341442-C-T
• gnomAD v4: 3-122341442-C-T
• MyVariant Identifiers: chr3:g.122060289C>T (hg19) ; chr3:g.122341442C>T (hg38)
• PubMed: PMID:25400170

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122341442C>T , CM000665.2:g.122341442C>T	GRCh38
NC_000003.11:g.122060289C>T , CM000665.1:g.122060289C>T	GRCh37
NC_000003.10:g.123542979C>T	NCBI36
NG_027995.1:g.21279C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264474.4:c.172C>T MANE Select	ENSP00000264474.3:p.Arg58Ter
ENST00000264474.3:c.172C>T	ENSP00000264474.3:p.Arg58Ter
NM_005213.3:c.172C>T	NP_005204.1:p.Arg58Ter
NM_005213.4:c.172C>T MANE Select	NP_005204.1:p.Arg58Ter