Canonical Allele Identifier: CA2570040

Gene: CSTA

Linked Data

• ClinVar Variation Id: 1285997
• ClinVar RCV Id: RCV001709774
• dbSNP Id: rs6762112
• ExAC: 3:122060274 A / C
• gnomAD v2: 3-122060274-A-C
• gnomAD v3: 3-122341427-A-C
• gnomAD v4: 3-122341427-A-C
• MyVariant Identifiers: chr3:g.122060274A>C (hg19) ; chr3:g.122341427A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122341427A>C , CM000665.2:g.122341427A>C	GRCh38
NC_000003.11:g.122060274A>C , CM000665.1:g.122060274A>C	GRCh37
NC_000003.10:g.123542964A>C	NCBI36
NG_027995.1:g.21264A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264474.4:c.169-12A>C MANE Select	ENSP00000264474.3:n.169-12A>C
ENST00000264474.3:c.169-12A>C	ENSP00000264474.3:n.169-12A>C
NM_005213.3:c.169-12A>C	NP_005204.1:n.169-12A>C
NM_005213.4:c.169-12A>C MANE Select	NP_005204.1:n.169-12A>C