Canonical Allele Identifier: CA542918802

Gene:

Linked Data

• dbSNP Id: rs1428364178
• gnomAD v2: 3-53091250-C-A
• MyVariant Identifiers: chr3:g.53091250C>A (hg19) ; chr3:g.53057234C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057234C>A , CM000665.2:g.53057234C>A	GRCh38
NC_000003.11:g.53091250C>A , CM000665.1:g.53091250C>A	GRCh37
NC_000003.10:g.53066290C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9995G>T
ENST00000607283.5:c.465-13980G>T
ENST00000607495.5:c.447+20454G>T