Canonical Allele Identifier: CA908188461

Gene:

Linked Data

• dbSNP Id: rs1430457365
• gnomAD v3: 3-53057118-A-G
• gnomAD v4: 3-53057118-A-G
• MyVariant Identifiers: chr3:g.53091134A>G (hg19) ; chr3:g.53057118A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057118A>G , CM000665.2:g.53057118A>G	GRCh38
NC_000003.11:g.53091134A>G , CM000665.1:g.53091134A>G	GRCh37
NC_000003.10:g.53066174A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9879T>C
ENST00000607283.5:c.465-13864T>C
ENST00000607495.5:c.447+20570T>C