Canonical Allele Identifier: CA1065916287

Gene:

Linked Data

• dbSNP Id: rs1473946125
• gnomAD v3: 4-99474265-G-T
• gnomAD v4: 4-99474265-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474265G>T , CM000666.2:g.99474265G>T	GRCh38
NC_000004.11:g.100395422G>T , CM000666.1:g.100395422G>T	GRCh37
NC_000004.10:g.100614445G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.243-2403C>A