Canonical Allele Identifier: CA1480021931

Gene:

Linked Data

• dbSNP Id: rs1722560354
• gnomAD v3: 4-99474249-G-A
• gnomAD v4: 4-99474249-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474249G>A , CM000666.2:g.99474249G>A	GRCh38
NC_000004.11:g.100395406G>A , CM000666.1:g.100395406G>A	GRCh37
NC_000004.10:g.100614429G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.243-2387C>T