Canonical Allele Identifier: CA74805337

Gene:

Linked Data

• dbSNP Id: rs901339204
• gnomAD v2: 3-53091221-T-G
• MyVariant Identifiers: chr3:g.53091221T>G (hg19) ; chr3:g.53057205T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057205T>G , CM000665.2:g.53057205T>G	GRCh38
NC_000003.11:g.53091221T>G , CM000665.1:g.53091221T>G	GRCh37
NC_000003.10:g.53066261T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9966A>C
ENST00000607283.5:c.465-13951A>C
ENST00000607495.5:c.447+20483A>C