Canonical Allele Identifier: CA542918799

Gene:

Linked Data

• dbSNP Id: rs1249601694
• gnomAD v2: 3-53091209-C-T
• gnomAD v3: 3-53057193-C-T
• gnomAD v4: 3-53057193-C-T
• MyVariant Identifiers: chr3:g.53091209C>T (hg19) ; chr3:g.53057193C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057193C>T , CM000665.2:g.53057193C>T	GRCh38
NC_000003.11:g.53091209C>T , CM000665.1:g.53091209C>T	GRCh37
NC_000003.10:g.53066249C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000607203.1:c.318-9954G>A
ENST00000607283.5:c.465-13939G>A
ENST00000607495.5:c.447+20495G>A