Canonical Allele Identifier: CA74805302

Gene:

Linked Data

• dbSNP Id: rs563434004
• gnomAD v3: 3-53057096-G-T
• gnomAD v4: 3-53057096-G-T
• MyVariant Identifiers: chr3:g.53091112G>T (hg19) ; chr3:g.53057096G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057096G>T , CM000665.2:g.53057096G>T	GRCh38
NC_000003.11:g.53091112G>T , CM000665.1:g.53091112G>T	GRCh37
NC_000003.10:g.53066152G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9857C>A
ENST00000607283.5:c.465-13842C>A
ENST00000607495.5:c.447+20592C>A