Canonical Allele Identifier: CA908188484

Gene:

Linked Data

• dbSNP Id: rs1473009384
• gnomAD v3: 3-53057202-G-C
• gnomAD v4: 3-53057202-G-C
• MyVariant Identifiers: chr3:g.53091218G>C (hg19) ; chr3:g.53057202G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057202G>C , CM000665.2:g.53057202G>C	GRCh38
NC_000003.11:g.53091218G>C , CM000665.1:g.53091218G>C	GRCh37
NC_000003.10:g.53066258G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9963C>G
ENST00000607283.5:c.465-13948C>G
ENST00000607495.5:c.447+20486C>G