Canonical Allele Identifier: CA553112497

Gene:

Linked Data

• dbSNP Id: rs1229780953
• gnomAD v2: 4-100395552-C-T
• gnomAD v3: 4-99474395-C-T
• gnomAD v4: 4-99474395-C-T
• MyVariant Identifiers: chr4:g.100395552C>T (hg19) ; chr4:g.99474395C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474395C>T , CM000666.2:g.99474395C>T	GRCh38
NC_000004.11:g.100395552C>T , CM000666.1:g.100395552C>T	GRCh37
NC_000004.10:g.100614575C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.242+2353G>A